ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.329G>T (p.Gly110Val)

dbSNP: rs1244619961
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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 RCV002326204 SCV002611225 uncertain significance Cardiovascular phenotype 2022-01-10 criteria provided, single submitter clinical testing The p.G110V variant (also known as c.329G>T), located in coding exon 2 of the FKBP14 gene, results from a G to T substitution at nucleotide position 329. The glycine at codon 110 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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