ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1284C>G (p.His428Gln) (rs776034412)

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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 RCV000567670 SCV000669830 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000630232 SCV000751188 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 428 of the MSH2 protein (p.His428Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs776034412, ExAC 0.002%). This variant has been reported in an individual affected with colorectal cancer (PMID: 28466842). ClinVar contains an entry for this variant (Variation ID: 483723). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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