ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2567A>G (p.Tyr856Cys) (rs587779150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662430 SCV000784885 uncertain significance Lynch syndrome I 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000692140 SCV000819949 uncertain significance Hereditary nonpolyposis colon cancer 2018-06-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 856 of the MSH2 protein (p.Tyr856Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs587779150, ExAC 0.009%). This variant has been reported in individuals in the Universal Mutation Database (PMID: 10612827) and the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91003). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their 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.
Color RCV000774582 SCV000908331 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-06 criteria provided, single submitter clinical testing

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