ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1069G>C (p.Glu357Gln) (rs587779069)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629705 SCV000750661 uncertain significance Hereditary nonpolyposis colon cancer 2017-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 357 of the MSH2 protein (p.Glu357Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with colorectal cancer (PMID: 15184898). ClinVar contains an entry for this variant (Variation ID: 90516). An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be tolerated (PMID: 18383312). However, this prediction has not been confirmed by published functional studies and its 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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