ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)

dbSNP: rs1318630651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250122 SCV002517635 pathogenic Lynch syndrome 1 2022-05-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002250122 SCV004186603 likely pathogenic Lynch syndrome 1 2023-08-08 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30504929]. This variant is expected to disrupt protein structure [Myriad internal data].

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