||TTR-related cardiac amyloidosis
||common in clinvar
rs76992529, also known as V122I, Val122Ile, V142I or Val142Ile, is a mutation in the transthyretin TTR gene. This risk allele for this SNP, rs76992529(A), is found primarily in people of African ancestry, and may be found in up to 4% of African-Americans.
A person with one or two copies of the (A) allele of this SNP is at significantly higher (by about 2 - 3 fold) risk of developing cardiac amyloidosis, in which levels of the transthyretin protein build up and can lead to heart failure, especially with increasing age.
This SNP is also known as i3002759 and i6019130 within 23andMe data.
[PMID 166310] Letter: Diagnosis of neuronal ceroid lipofuscinosis by electron microscopy of urinary sediment.
[PMID 2237288] Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.
[PMID 11752443] The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
[PMID 12874413] Medical errors on an inpatient neurology service.
[PMID 15123043] The hereditary amyloidoses.
[PMID 17503405] Genetic microheterogeneity of human transthyretin detected by IEF.