ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)

gnomAD frequency: 0.00002  dbSNP: rs778997084
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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 RCV000873869 SCV001015954 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001619854 SCV001846486 benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354682 SCV002622877 likely benign Cardiovascular phenotype 2021-06-22 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.
Revvity Omics, Revvity RCV001619854 SCV003833145 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing

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