| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common/normal
|
| (C;T)
|
4
|
Possible polyp associated variant, but of uncertain significance
|
| (T;T)
|
4
|
Possible polyp associated variant, but of uncertain significance
|
rs200165598, also known as c.700G>A, p.Val234Met and V234M, represents a rare variant in the MUTYH gene on chromosome 1.
The rs200165598(A) variant is considered in ClinVar to be of uncertain significance, i.e. it's association with MYH-associated polyposis (thereby perhaps mimicking Lynch syndrome) is unclear.
A SNPedia user has reported to us that this variant was seen in an exome analysis of a family member who has had several rounds of colon surgery due to recurrent polyp illness, and that if it's the cause, it's apparently acting as a dominant mutation since no other questionable MUTYH gene variants were found (although there could be variants that weren't sequenced outside the exons). We encourage other SNPedia (and Promethease) users carrying the rs200165598(A) variant to report any related evidence for or against this association.
Of note, most of those with non-Lynch syndrome polyps were found to have mono-allelic MUTYH variants
instead of bi-allelic
[PMID 25980754
] Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
Research from the online platform FindMyVariant.org has provided confirming evidence that MUTYH rs200165598 is pathogenic, though in the family described the MUTYH variant 536A>G co-occurred.
{see Supplementary Table S1 (family 1085)}.
[PMID 30374176] Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance
] Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
