ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.598G>A (p.Val200Ile) (rs587778620)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412111 SCV000489497 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570676 SCV000674235 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000570676 SCV000691089 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-19 criteria provided, single submitter clinical testing
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030724 SCV001193692 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Invitae RCV001244956 SCV001418212 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 200 of the PMS2 protein (p.Val200Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs587778620, ExAC 0.02%). This variant has not been reported in the literature in individuals with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 135070). 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 isoleucine 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.
ITMI RCV000121858 SCV000086060 not provided not specified 2013-09-19 no assertion provided reference population

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