ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.182A>C (p.Gln61Pro) (rs587779113)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603120 SCV000730543 likely benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000662761 SCV000785555 uncertain significance Lynch syndrome I 2017-09-13 criteria provided, single submitter clinical testing
GeneKor MSA RCV000708715 SCV000822049 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Color RCV000708715 SCV000908272 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708715 SCV001173915 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-12 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001218170 SCV001390042 uncertain significance Hereditary nonpolyposis colon cancer 2019-06-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 61 of the MSH2 protein (p.Gln61Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs587779113, ExAC 0.002%). This variant has been observed in an individual with MSH2-related conditions (PMID: 25133505). ClinVar contains an entry for this variant (Variation ID: 90798). This variant has been reported not to substantially affect MSH2 protein function (PMID: 17720936, 20176959). 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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