ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1471G>A (p.Val491Met)

gnomAD frequency: 0.00003  dbSNP: rs770264114
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689009 SCV000816644 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001569945 SCV001794119 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 568601; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26582918)
Ambry Genetics RCV002388218 SCV002697521 uncertain significance Cardiovascular phenotype 2022-04-28 criteria provided, single submitter clinical testing The p.V491M variant (also known as c.1471G>A), located in coding exon 9 of the FLNC gene, results from a G to A substitution at nucleotide position 1471. The valine at codon 491 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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 RCV002477542 SCV002785813 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
Revvity Omics, Revvity RCV001569945 SCV003833129 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing

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