ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1407T>C (p.Asp469=)

gnomAD frequency: 0.00008  dbSNP: rs112172952
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127024 SCV000170557 benign not specified 2014-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845378 SCV000987436 benign not provided criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181119 SCV001346205 likely benign Cardiomyopathy 2019-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315268 SCV001505833 uncertain significance Hypertrophic cardiomyopathy 2024-10-23 criteria provided, single submitter clinical testing This sequence change affects codon 469 of the MYH7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs112172952, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 138393). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002390288 SCV002702505 likely benign Cardiovascular phenotype 2019-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001181119 SCV004821690 likely benign Cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Cohesion Phenomics RCV001315268 SCV003803018 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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