ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.458C>G (p.Ser153Cys) (rs766349734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561879 SCV000662293 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000691313 SCV000819088 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-26 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 153 of the MSH2 protein (p.Ser153Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs766349734, ExAC 0.001%). This variant has been reported in a family affected with suspected Lynch syndrome (PMID: 28874130). ClinVar contains an entry for this variant (Variation ID: 479821). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV000561879 SCV001342614 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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