ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.904-2A>G (rs587781339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129110 SCV000183822 pathogenic Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000206112 SCV000261727 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-05-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the PMS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features consistent with Lynch syndrome (PMID: 25117502, 27696107). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000576592 SCV000677800 likely pathogenic Hereditary nonpolyposis colorectal cancer type 4 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000129110 SCV000686254 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing

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