ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2528G>A (p.Cys843Tyr) (rs747700106)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166329 SCV000217115 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000232782 SCV000284153 uncertain significance Hereditary nonpolyposis colon cancer 2017-10-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 843 of the MSH2 protein (p.Cys843Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs747700106, ExAC 0.01%). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 186694). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 RCV000166329 SCV000903536 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000166329 SCV000788034 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-14 no assertion criteria provided clinical testing

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