ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2381C>A (p.Pro794His)

dbSNP: rs876659030
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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 RCV001015330 SCV001176152 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing The p.P794H variant (also known as c.2381C>A), located in coding exon 14 of the PMS2 gene, results from a C to A substitution at nucleotide position 2381. The proline at codon 794 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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