Submissions for variant NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)

dbSNP: rs1064796377

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV002506746	SCV002810423	likely pathogenic	Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	2021-07-12	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004008971	SCV004831698	uncertain significance	Hypertrophic cardiomyopathy	2023-07-10	criteria provided, single submitter	clinical testing	This variant changes 1 nucleotide in exon 6 of the MYL2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in homozygosity in one individual affected with cardiomyopathy (PMID: 29988065). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function MYL2 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723361	SCV001955218	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723361	SCV001968411	pathogenic	not provided		no assertion criteria provided	clinical testing