ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)

gnomAD frequency: 0.00016  dbSNP: rs202125701
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422452 SCV000528294 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000649258 SCV000771083 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328965 SCV002629433 likely benign Cardiovascular phenotype 2019-01-09 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 RCV001702479 SCV002821853 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FLNC: BP4
Clinical Genetics, Academic Medical Center RCV000422452 SCV001924117 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702479 SCV001929224 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702479 SCV001952746 likely benign not provided no assertion criteria provided clinical testing

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