ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.42G>A (p.Ala14=)

gnomAD frequency: 0.00002  dbSNP: rs374396150
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162822 SCV000213305 likely benign Hereditary cancer-predisposing syndrome 2016-10-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206173 SCV000260095 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-17 criteria provided, single submitter clinical testing
Counsyl RCV000411363 SCV000489585 likely benign Lynch syndrome 1 2016-10-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162822 SCV000903998 likely benign Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411363 SCV004018316 benign Lynch syndrome 1 2023-03-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV003995223 SCV004826283 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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