ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)

dbSNP: rs774963796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207701 SCV001379066 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2019-09-27 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"). This variant has not been reported in the literature in individuals with FLNC-related conditions. This variant is present in population databases (rs774963796, ExAC 0.002%). This sequence change replaces valine with alanine at codon 563 of the FLNC protein (p.Val563Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.
Ambry Genetics RCV002411765 SCV002715897 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.V563A variant (also known as c.1688T>C), located in coding exon 11 of the FLNC gene, results from a T to C substitution at nucleotide position 1688. The valine at codon 563 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491628 SCV002777605 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-08 criteria provided, single submitter clinical testing

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