ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser)

gnomAD frequency: 0.00001  dbSNP: rs767436158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001971696 SCV002261483 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170315 SCV003913399 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.N782S variant (also known as c.2345A>G), located in coding exon 15 of the FLNC gene, results from an A to G substitution at nucleotide position 2345. The asparagine at codon 782 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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