ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.188T>C (p.Val63Ala)

dbSNP: rs1583410835
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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 RCV001013467 SCV001174056 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing The p.V63A variant (also known as c.188T>C), located in coding exon 3 of the PMS2 gene, results from a T to C substitution at nucleotide position 188. The valine at codon 63 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in several other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.

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