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rs104894845

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 Familial hypertrophic cardiomyopathy possible; but significance is uncertain
(G;G) 0 common in clinvar


Make rs104894845(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101401752
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs104894845
dbSNP (old)rs104894845
ClinGenrs104894845
ebirs104894845
HLIrs104894845
Exacrs104894845
Gnomadrs104894845
Varsomers104894845
Maprs104894845
PheGenIrs104894845
Biobankrs104894845
1000 genomesrs104894845
hgdprs104894845
ensemblrs104894845
gopubmedrs104894845
geneviewrs104894845
scholarrs104894845
googlers104894845
pharmgkbrs104894845
gwascentralrs104894845
openSNPrs104894845
23andMers104894845
23andMe allrs104894845
SNPshotrs104894845
SNPdbers104894845
MSV3drs104894845
GWAS Ctlgrs104894845
Max Magnitude4
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].


However, multiple submitters also indicate that the significance of this variant is really unclear at this time. The following statement by Invitae in ClinVar summarizes the situation very clearly: "In summary, this variant has been seen in many patients described with a milder Fabry disease phenotype and causes reduced alpha-galactosidase enzyme activity. However, this variant occurs at an appreciable frequency in population databases, asymptomatic adult relatives have been identified, and most patient do not have evidence of storage on tissue biopsy. For these reasons, this change has been classified as a Variant of Uncertain Significance."

OMIM300644
Desc
Variant0036
Relatedalso
OMIM300644
Desc
Variant0057
Relatedalso
ClinVar
Risk rs104894845(A;A) rs104894845(C;C)
Alt rs104894845(A;A) rs104894845(C;C)
Reference Rs104894845(G;G)
Significance Other
Disease Fabry disease not provided Cardiomyopathy not specified
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease not provided Cardiomyopathy not specified
Reversed 1
HGVS NC_000023.10:g.100656740C>G; NC_000023.10:g.100656740C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011516.6, RCV000157890.2, RCV000011495.10, RCV000157242.2, RCV000211872.1, RCV000224064.1,