ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6991G>A (p.Val2331Met)

gnomAD frequency: 0.00156  dbSNP: rs191288058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649269 SCV000771094 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729933 SCV000857635 likely benign not specified 2017-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001595030 SCV001829442 benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360634 SCV002665170 benign Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing This alteration is classified as 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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