ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)

gnomAD frequency: 0.00001  dbSNP: rs1351915127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001992843 SCV002226890 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-05 criteria provided, single submitter clinical testing
GeneDx RCV002281204 SCV002569817 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002334956 SCV002638159 uncertain significance Cardiovascular phenotype 2019-12-02 criteria provided, single submitter clinical testing The p.V1560L variant (also known as c.4678G>C), located in coding exon 27 of the FLNC gene, results from a G to C substitution at nucleotide position 4678. The valine at codon 1560 is replaced by leucine, 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.
Revvity Omics, Revvity RCV002281204 SCV003833600 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing

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