ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)

gnomAD frequency: 0.00025  dbSNP: rs374132023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536394 SCV000650920 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001662580 SCV001872712 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 471987; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002413596 SCV002716180 uncertain significance Cardiovascular phenotype 2023-12-07 criteria provided, single submitter clinical testing The p.V586A variant (also known as c.1757T>C), located in coding exon 11 of the FLNC gene, results from a T to C substitution at nucleotide position 1757. The valine at codon 586 is replaced by alanine, an amino acid with similar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort (Begay RL et al. JACC Clin Electrophysiol, 2018 Apr;4:504-514). 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 RCV002483471 SCV002786179 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-29 criteria provided, single submitter clinical testing

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