ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) (rs587780724)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123077 SCV000166372 pathogenic Lynch syndrome 2016-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 459 (p.Ser459*) 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.
GeneDx RCV000478100 SCV000565401 pathogenic not provided 2014-05-27 criteria provided, single submitter clinical testing This pathogenic variant is denoted PMS2 c.1376C>A at the cDNA level and p.Ser459Ter (S459X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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