ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.894G>A (p.Leu298=)

gnomAD frequency: 0.00005  dbSNP: rs147062651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558497 SCV000623758 uncertain significance Hypertrophic cardiomyopathy 2024-01-28 criteria provided, single submitter clinical testing This sequence change affects codon 298 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 (rs147062651, gnomAD 0.02%). 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: 454396). 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.
GeneDx RCV001722454 SCV000729177 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176063 SCV001339896 likely benign Cardiomyopathy 2019-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376984 SCV002683963 likely benign Cardiovascular phenotype 2019-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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