ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.733G>A (p.Val245Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290862 SCV002580812 uncertain significance Hypertrophic cardiomyopathy 26 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382502 SCV002668774 uncertain significance Cardiovascular phenotype 2023-11-13 criteria provided, single submitter clinical testing The p.V245M variant (also known as c.733G>A), located in coding exon 4 of the FLNC gene, results from a G to A substitution at nucleotide position 733. The valine at codon 245 is replaced by methionine, an amino acid with highly similar properties. This variant has been detected in a proband with skeletal myopathy whose relatives with this variant were reported to have features of skeletal myopathy or dilated cardiomyopathy (Velardo D et al. Front Neurol, 2022 Jul;13:930039). 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.
OMIM RCV002284053 SCV002573394 pathogenic Distal myopathy with posterior leg and anterior hand involvement 2022-09-14 no assertion criteria provided literature only

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