ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1154C>T (p.Pro385Leu) (rs564736113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794953 SCV000934391 uncertain significance Hereditary nonpolyposis colon cancer 2018-09-21 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 385 of the MSH2 protein (p.Pro385Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). 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: 90556). Experimental studies have shown that this missense change does not impact MSH2 mismatch repair activity in vitro (PMID: 22102614). 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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