ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2790A>G (p.Ile930Met) (rs587779155)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411744 SCV000488028 uncertain significance Lynch syndrome I 2015-12-16 criteria provided, single submitter clinical testing
Invitae RCV000691322 SCV000819098 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 930 of the MSH2 protein (p.Ile930Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs587779155, ExAC 0.002%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91047). An algorithm developed specifically for the for mismatch repair genes including MSH2 suggests that this missense change is likely to be tolerated (PMID: 22290698). 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.
Ambry Genetics RCV001016615 SCV001177583 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV001016615 SCV001353065 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-18 criteria provided, single submitter clinical testing

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