ClinVar

Description

p.Ser101Stop (TCG>TAG): c.302 C>A in exon 4 of the MYOZ2 gene (NM_016599.4). A variant of unknown significance has been identified in the MYOZ2 gene. The S101X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. S101X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, the S101X sequence change in the MYOZ2 gene was reported as a variant of unknown significance (Ng et al., 2013). S101X was reported in one individual from 870 participants not selected for a clinical phenotype or family history of arrhythmia or cardiomyopathy, who underwent whole exome sequencing as part of the ClinSeq study (Ng et al., 2013). The authors piloted a method to identify incidental results in cardiomyopathy and arrhythmia-associated alleles and provided interpretation for these variants (Ng et al., 2013). The S101X variant was classified as a variant of unknown significance given that no loss-of-function mutations have been reported in the MYOZ2 gene in association with cardiomyopathy (Ng et al., 2013).Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in CARDIOMYOPATHY