ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) (rs760228510)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568505 SCV000670743 pathogenic Hereditary cancer-predisposing syndrome 2018-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000568505 SCV000686222 pathogenic Hereditary cancer-predisposing syndrome 2017-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000222317 SCV000279402 pathogenic not provided 2017-09-25 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.631C>T at the cDNA level and p.Arg211Ter (R211X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with a personal history of colon cancer showing microsatellite instability and absent PMS2 protein via immunohistochemistry (Buchannan 2017). We consider this variant to be pathogenic.
Invitae RCV000473579 SCV000552000 pathogenic Hereditary nonpolyposis colon cancer 2018-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 211 (p.Arg211*) of the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic. This particular variant has been reported in an individual with Lynch syndrome (PMID: 27273229). For these reasons, this variant has been classified as Pathogenic.

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