ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2236_2241del (p.Ile746_Ile747del) (rs587779142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629773 SCV000750729 uncertain significance Hereditary nonpolyposis colon cancer 2017-09-13 criteria provided, single submitter clinical testing This variant, c.2236_2241delATCATA, results in the deletion of 2 amino acids of the MSH2 protein (p.Ile746_Ile747del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Lynch syndrome, who met Amsterdam I/II criteria (PMID: 17101317). This variant is also known as I745_746del. ClinVar contains an entry for this variant (Variation ID: 90937). Experimental studies in vitro have shown that this missense change results in reduce mismatch repair efficiency (PMID: 17101317). 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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