ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2542G>T (p.Ala848Ser) (rs746972142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204877 SCV000260250 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 848 of the MSH2 protein (p.Ala848Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs746972142, ExAC 0.004%). This variant has been reported in individuals affected with colorectal cancer and ovarian cancer (PMID: 18547406, 23047549). ClinVar contains an entry for this variant (Variation ID: 220024). Experimental studies have shown that this missense change does not impact protein expression, and retains wild-type levels of mismatch-repair activity (PMID: 19697156, 22290698). 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 RCV000491044 SCV000580534 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000491044 SCV000685053 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing

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