ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)

gnomAD frequency: 0.00002  dbSNP: rs534482249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176185 SCV000227800 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088404 SCV000650981 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000176185 SCV001803950 likely benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321695 SCV002609478 likely benign Cardiovascular phenotype 2020-06-02 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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