ClinVar Miner

Submissions for variant NM_012108.4(STAP1):c.511G>C (p.Val171Leu)

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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 RCV005277693 SCV005943437 uncertain significance not specified 2025-01-19 criteria provided, single submitter clinical testing The p.V171L variant (also known as c.511G>C), located in coding exon 5 of the STAP1 gene, results from a G to C substitution at nucleotide position 511. The valine at codon 171 is replaced by leucine, an amino acid with highly 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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