|MYL2 A13T||pathogenic, f=0.000||dominant|| |
This rare variant is reported to cause late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown. This variant is reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/14064/) with conflicting interpretations: two sources classify it as pathogenic, three as “uncertain significance”, and one as “likely benign”.
(44 web hits)
|CGI sample GS00253-DNA_F01_200_37|
|MYL2 F18L||insufficiently evaluated pathogenic||unknown||
(16 web hits)
|MYL2 E22K||insufficiently evaluated pathogenic||unknown||
(36 web hits)
|MYL2 N47K||pathogenic||dominant|| |
Reported in ClinVar by multiple groups, potentially causing cardiomyopathy in a dominant fashion (http://www.ncbi.nlm.nih.gov/clinvar/variation/31766/). GeneDx classified this as pathogenic, and other groups classified the effect as uncertain. However, according to ExAC data 1 in 1700 with European descent carry this variant. This could be seen as contradicting the proposed effect, because such a high frequency would suggest this variant (if causal) should account for a large fraction of cases and should thus have strong supporting evidence (i.e. far stronger than “uncertain” status with specialist groups).
|MYL2 R58Q||insufficiently evaluated pathogenic||unknown||
(17 web hits)
|MYL2 P94R||insufficiently evaluated pathogenic||unknown||
(3 web hits)
|Total results: 6|