ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4548C>T (p.Ala1516=)

gnomAD frequency: 0.00001  dbSNP: rs376441465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426458 SCV001629111 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341922 SCV002640162 likely benign Cardiovascular phenotype 2022-10-17 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.
CeGaT Center for Human Genetics Tuebingen RCV004809596 SCV005433079 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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