ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.120C>T (p.Gly40=)

dbSNP: rs2103875094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477299 SCV004220940 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on MSH2 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
Myriad Genetics, Inc. RCV005249516 SCV005895657 benign Lynch syndrome 1 2024-12-03 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.

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