ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)

dbSNP: rs1554298786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629989 SCV000750945 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PMS2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 525740). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln346*) in 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 (PMID: 21376568, 24362816).
GeneDx RCV001591406 SCV001824951 pathogenic not provided 2019-04-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss-of-function is a known mechanism of disease; Not observed [at a significant frequency] in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV001805233 SCV002053312 pathogenic Hereditary cancer-predisposing syndrome 2021-02-26 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 10 of the PMS2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PMS2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV003451496 SCV004188587 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.

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