ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452390 SCV004187612 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: 35451539]. This variant is expected to disrupt protein structure [Myriad internal data].

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