ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.148G>A (p.Ala50Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002823988 SCV003196553 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-05-21 criteria provided, single submitter clinical testing Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt MSH2 protein function. This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 50 of the MSH2 protein (p.Ala50Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004007617 SCV004834316 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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