ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4725G>A (p.Lys1575=)

gnomAD frequency: 0.00001  dbSNP: rs45476496
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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 RCV000154770 SCV000204450 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Lys1575Lys in exon 34 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Lys1575Lys in exon 34 of MYH7 (allele freque ncy = n/a)
GeneDx RCV000154770 SCV000515376 likely benign not specified 2017-04-04 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 RCV000777998 SCV000914105 likely benign Cardiomyopathy 2018-09-29 criteria provided, single submitter clinical testing
Invitae RCV001440280 SCV001643186 likely benign Hypertrophic cardiomyopathy 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336321 SCV002639244 likely benign Cardiovascular phenotype 2020-02-18 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777998 SCV004239470 likely benign Cardiomyopathy 2022-08-16 criteria provided, single submitter clinical testing

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