ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2535T>G (p.His845Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455749 SCV002739308 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-09 criteria provided, single submitter clinical testing The p.H845Q variant (also known as c.2535T>G), located in coding exon 15 of the PMS2 gene, results from a T to G substitution at nucleotide position 2535. The histidine at codon 845 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Myriad Genetics, Inc. RCV003455480 SCV004187575 likely pathogenic Lynch syndrome 4 2023-09-25 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 18619468, 35451539]. This variant is expected to disrupt protein structure [Myriad internal data].

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