ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.724G>T (p.Val242Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004996888 SCV005581305 uncertain significance Cardiovascular phenotype 2024-10-14 criteria provided, single submitter clinical testing The p.V242L variant (also known as c.724G>T), located in coding exon 5 of the FKTN gene, results from a G to T substitution at nucleotide position 724. The valine at codon 242 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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