ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5220C>T (p.His1740=)

gnomAD frequency: 0.00027  dbSNP: rs369739871
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920637 SCV001066009 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001537034 SCV001753859 likely benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346090 SCV002645994 likely benign Cardiovascular phenotype 2019-12-10 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.
PreventionGenetics, part of Exact Sciences RCV003978032 SCV004791589 likely benign FLNC-related disorder 2019-03-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994166 SCV004813853 benign not specified 2024-02-04 criteria provided, single submitter clinical testing

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