ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.121G>T (p.Asp41Tyr) (rs878853799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230826 SCV000284098 uncertain significance Hereditary nonpolyposis colon cancer 2019-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 41 of the MSH2 protein (p.Asp41Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 237361). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000575441 SCV000669717 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000575441 SCV001340968 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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