ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2168C>T (p.Ser723Phe) (rs63750794)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802176 SCV000941994 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 723 of the MSH2 protein (p.Ser723Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with suspected Lynch syndrome (PMID: 11920458, 18566915). ClinVar contains an entry for this variant (Variation ID: 90913). This variant has been reported to affect MSH2 protein function (PMID: 22102614, 17720936, 26951660). 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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