ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.595A>T (p.Ile199Leu)

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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 RCV004623570 SCV005116015 uncertain significance Cardiovascular phenotype 2024-04-26 criteria provided, single submitter clinical testing The p.I199L variant (also known as c.595A>T), located in coding exon 4 of the FKBP14 gene, results from an A to T substitution at nucleotide position 595. The isoleucine at codon 199 is replaced by leucine, 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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