ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.342C>T (p.Pro114=)

dbSNP: rs1057520438
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435683 SCV000515463 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580754 SCV000685401 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000630260 SCV000751216 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580754 SCV002618995 likely benign Hereditary cancer-predisposing syndrome 2022-10-10 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.
All of Us Research Program, National Institutes of Health RCV003996008 SCV004831110 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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