ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2180G>A (p.Arg727His)

gnomAD frequency: 0.00120  dbSNP: rs200618242
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557981 SCV000650936 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001725189 SCV001960510 benign not provided 2021-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431678 SCV002729368 likely benign Cardiovascular phenotype 2019-03-19 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001725189 SCV004565322 likely benign not provided 2023-10-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925674 SCV004739266 likely benign FLNC-related disorder 2019-05-20 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).
CeGaT Center for Human Genetics Tuebingen RCV001725189 SCV005093561 benign not provided 2024-07-01 criteria provided, single submitter clinical testing FLNC: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV001701044 SCV001918481 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725189 SCV001974014 likely benign not provided no assertion criteria provided clinical testing

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