ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2382G>A (p.Ala794=)

gnomAD frequency: 0.00006  dbSNP: rs536456072
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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 RCV001087260 SCV000650943 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711678 SCV000842065 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000711678 SCV001901665 benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456211 SCV002737049 likely benign Cardiovascular phenotype 2020-08-21 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.

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