ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2199C>G (p.Thr733=)

dbSNP: rs200655185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534013 SCV000650937 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001697312 SCV000724985 benign not provided 2021-06-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002431679 SCV002728092 likely benign Cardiovascular phenotype 2019-11-11 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 RCV003905425 SCV004721605 likely benign FLNC-related disorder 2022-02-15 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).

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