ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) (rs151251082)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079111 SCV000110980 uncertain significance not provided 2013-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129639 SCV000184434 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing in silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or Conflicting Evidence
Invitae RCV000229467 SCV000285151 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 238 of the PMS2 protein (p.Ser238Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs151251082, ExAC 0.05%). This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 93236). 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: "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.
Counsyl RCV000662416 SCV000784852 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000708994 SCV000838191 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000129639 SCV000911640 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000079111 SCV001134611 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing

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