ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4125C>T (p.Thr1375=)

gnomAD frequency: 0.00019  dbSNP: rs191931963
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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 RCV000914321 SCV001059492 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001683692 SCV001897468 benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332876 SCV002628522 likely benign Cardiovascular phenotype 2020-09-21 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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