ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)

gnomAD frequency: 0.00004  dbSNP: rs372668691
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817903 SCV000958488 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001702722 SCV001992167 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32112656)
Ambry Genetics RCV004028930 SCV005017770 uncertain significance Cardiovascular phenotype 2024-02-21 criteria provided, single submitter clinical testing The p.D646N variant (also known as c.1936G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1936. The aspartic acid at codon 646 is replaced by asparagine, an amino acid with highly similar properties. This variant has been detected in an individual with unspecified myopathy; however, details were limited (Verdonschot JAJ et al. Hum Mutat, 2020 Jun;41:1091-1111). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702722 SCV001932636 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702722 SCV001959887 uncertain significance not provided no assertion criteria provided clinical testing

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