ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1691C>A (p.Thr564Asn) (rs1553367632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572556 SCV000676101 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001236379 SCV001409102 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 564 of the MSH2 protein (p.Thr564Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 486882). 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 tolerated, 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.

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