ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3960G>A (p.Glu1320=)

gnomAD frequency: 0.00011  dbSNP: rs200717144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525510 SCV000651008 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001572548 SCV001797208 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358569 SCV002621081 likely benign Cardiovascular phenotype 2020-02-27 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 RCV001572548 SCV003917563 likely benign not provided 2025-04-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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