ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.259G>A (p.Gly87Ser)

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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 RCV005327905 SCV006001099 uncertain significance Cardiovascular phenotype 2025-02-20 criteria provided, single submitter clinical testing The p.G87S variant (also known as c.259G>A), located in coding exon 2 of the FKBP14 gene, results from a G to A substitution at nucleotide position 259. The glycine at codon 87 is replaced by serine, an amino acid with 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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