ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2485T>G (p.Phe829Val)

dbSNP: rs758056957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197617 SCV001368396 uncertain significance Hypertrophic cardiomyopathy 26 2020-03-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1.
Fulgent Genetics, Fulgent Genetics RCV002480648 SCV002788555 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033473 SCV005017692 uncertain significance Cardiovascular phenotype 2023-09-23 criteria provided, single submitter clinical testing The p.F829V variant (also known as c.2485T>G), located in coding exon 16 of the FLNC gene, results from a T to G substitution at nucleotide position 2485. The phenylalanine at codon 829 is replaced by valine, an amino acid with highly similar 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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