ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2249del (p.Gly750fs)

dbSNP: rs1583285552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808396 SCV000948504 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-06-18 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. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This sequence change creates a premature translational stop signal (p.Gly750Alafs*18) in the PMS2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003453692 SCV004188722 pathogenic Lynch syndrome 4 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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