ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.354A>T (p.Lys118Asn)

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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 RCV005336697 SCV006001100 uncertain significance Cardiovascular phenotype 2025-03-03 criteria provided, single submitter clinical testing The p.K118N variant (also known as c.354A>T), located in coding exon 3 of the FKBP14 gene, results from an A to T substitution at nucleotide position 354. The lysine at codon 118 is replaced by asparagine, an amino acid with 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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