ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) (rs1458321358)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507540 SCV000601857 likely pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000530268 SCV000625682 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 237 (p.Gln237*) of the PMS2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662813 SCV000785649 likely pathogenic Hereditary nonpolyposis colorectal cancer type 4 2017-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026032 SCV001188335 pathogenic Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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