ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1228G>C (p.Val410Leu)

gnomAD frequency: 0.00004  dbSNP: rs993836469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822173 SCV000962964 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363168 SCV002665351 uncertain significance Cardiovascular phenotype 2024-01-23 criteria provided, single submitter clinical testing The p.V410L variant (also known as c.1228G>C), located in coding exon 8 of the FLNC gene, results from a G to C substitution at nucleotide position 1228. The valine at codon 410 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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