ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.510T>G (p.Pro170=)

dbSNP: rs1572716230
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001392076 SCV001593709 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350739 SCV002645538 likely benign Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004531202 SCV004712251 likely benign MSH6-related disorder 2020-08-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004006855 SCV004829308 likely benign Lynch syndrome 2023-11-28 criteria provided, single submitter clinical testing

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