ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1953C>T (p.Asp651=)

gnomAD frequency: 0.00003  dbSNP: rs554570268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516055 SCV001724267 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421166 SCV002718351 likely benign Cardiovascular phenotype 2019-06-17 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.
CeGaT Center for Human Genetics Tuebingen RCV003426168 SCV004161028 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FLNC: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003921121 SCV004730248 likely benign FLNC-related disorder 2020-10-31 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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