ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.446G>A (p.Gly149Asp) (rs587779162)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821319 SCV000962073 uncertain significance Hereditary nonpolyposis colon cancer 2018-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 149 of the MSH2 protein (p.Gly149Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colorectal cancer (PMID: 18383312). ClinVar contains an entry for this variant (Variation ID: 91099). An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be deleterious (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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