ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1518C>T (p.Ile506=)

gnomAD frequency: 0.00002  dbSNP: rs397516108
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035726 SCV000059377 likely benign not specified 2012-06-01 criteria provided, single submitter clinical testing Ile506Ile in exon 15 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Ile506Ile in exon 15 of MYH7 (allele frequenc y = n/a)
GeneDx RCV000035726 SCV000730967 likely benign not specified 2017-11-15 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.
Color Diagnostics, LLC DBA Color Health RCV001175851 SCV001339629 likely benign Cardiomyopathy 2018-11-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001175851 SCV002042252 likely benign Cardiomyopathy 2021-11-30 criteria provided, single submitter clinical testing
Invitae RCV002054570 SCV002330562 likely benign Hypertrophic cardiomyopathy 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372602 SCV004082365 likely benign Cardiovascular phenotype 2023-08-13 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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