ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1579del (p.Arg527fs)

dbSNP: rs1554297523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527294 SCV000625540 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-01-11 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 been reported in compound heterozygosity with another pathogenic PMS2 allele in an individual affected with constitutional mismatch repair deficiency (CMMRD) (PMID: 26318770). ClinVar contains an entry for this variant (Variation ID: 455662). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg527Glyfs*68) in the PMS2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003449544 SCV004188609 pathogenic Lynch syndrome 4 2023-09-20 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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