ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu)

dbSNP: rs1790172789
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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 RCV002387918 SCV002690311 uncertain significance Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing The p.G45E variant (also known as c.134G>A), located in coding exon 1 of the FKBP14 gene, results from a G to A substitution at nucleotide position 134. The glycine at codon 45 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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