ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.872T>C (p.Leu291Ser)

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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 RCV005336754 SCV006001196 uncertain significance Cardiovascular phenotype 2025-02-13 criteria provided, single submitter clinical testing The p.L291S variant (also known as c.872T>C), located in coding exon 6 of the FKTN gene, results from a T to C substitution at nucleotide position 872. The leucine at codon 291 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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