ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)

dbSNP: rs1064793426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064864 SCV001229793 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln604*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003455284 SCV004188586 pathogenic Lynch syndrome 4 2023-09-20 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003455284 SCV004207853 likely pathogenic Lynch syndrome 4 2023-05-08 criteria provided, single submitter clinical testing

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