ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.89C>T (p.Pro30Leu) (rs757892928)

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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 RCV000164508 SCV000215159 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000233615 SCV000284193 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-18 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 30 of the MSH2 protein (p.Pro30Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs757892928, ExAC 0.003%). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 185140). 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.
Counsyl RCV000411131 SCV000487830 uncertain significance Lynch syndrome I 2015-12-01 criteria provided, single submitter clinical testing
Color RCV000164508 SCV000685138 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-17 criteria provided, single submitter clinical testing

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