ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)

dbSNP: rs886044638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403726 SCV000345740 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
Invitae RCV001201727 SCV001372813 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 291057). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 820 of the FLNC protein (p.Asp820Val).
Ambry Genetics RCV002429239 SCV002731624 uncertain significance Cardiovascular phenotype 2021-12-24 criteria provided, single submitter clinical testing The p.D820V variant (also known as c.2459A>T), located in coding exon 16 of the FLNC gene, results from an A to T substitution at nucleotide position 2459. The aspartic acid at codon 820 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.

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