ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1659C>G (p.Asn553Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800071 SCV000939770 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 553 of the MSH2 protein (p.Asn553Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be deleterious (PMID: 23690608). 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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