ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2007-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417268 SCV002719545 likely pathogenic Hereditary cancer-predisposing syndrome 2017-04-13 criteria provided, single submitter clinical testing The c.2007-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 12 of the PMS2 gene. This nucleotide position is highly conserved in available vertebrate species. Based on two different splice site prediction tools, this alteration is expected to abolish the native splice acceptor site; however experimental evidence is not currently available. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Myriad Genetics, Inc. RCV003454315 SCV004187596 likely pathogenic Lynch syndrome 4 2023-09-21 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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