ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1798A>G (p.Met600Val) (rs1304634005)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662640 SCV000785326 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Color RCV000772030 SCV000904998 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772030 SCV001173766 likely benign Hereditary cancer-predisposing syndrome 2019-05-22 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030721 SCV001193689 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Invitae RCV001061729 SCV001226482 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 600 of the PMS2 protein (p.Met600Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 548758). 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 valine 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.

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