ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.14C>G (p.Pro5Arg) (rs56170584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546654 SCV000625273 uncertain significance Hereditary nonpolyposis colon cancer 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 5 of the MSH2 protein (p.Pro5Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an unaffected individual from a family suspected of Lynch syndrome (PMID: 14692024). ClinVar contains an entry for this variant (Variation ID: 455500). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000579789 SCV000684941 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579789 SCV001172270 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing Insufficient evidence

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