ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002439641 SCV002747221 uncertain significance Cardiovascular phenotype 2022-10-09 criteria provided, single submitter clinical testing The p.D925V variant (also known as c.2774A>T), located in coding exon 18 of the FLNC gene, results from an A to T substitution at nucleotide position 2774. The aspartic acid at codon 925 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003102198 SCV002987669 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-04-08 criteria provided, single submitter clinical testing

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