ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.75G>T (p.Leu25Phe)

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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 RCV004623635 SCV005118167 uncertain significance Cardiovascular phenotype 2024-05-19 criteria provided, single submitter clinical testing The p.L25F variant (also known as c.75G>T), located in coding exon 1 of the FKTN gene, results from a G to T substitution at nucleotide position 75. The leucine at codon 25 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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