ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.400A>G (p.Ile134Val)

gnomAD frequency: 0.00002  dbSNP: rs150285287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237753 SCV001410527 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375253 SCV002624538 uncertain significance Cardiovascular phenotype 2021-06-30 criteria provided, single submitter clinical testing The p.I134V variant (also known as c.400A>G), located in coding exon 2 of the FLNC gene, results from an A to G substitution at nucleotide position 400. The isoleucine at codon 134 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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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