ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2635-1G>A

dbSNP: rs267608020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491804 SCV000580630 pathogenic Hereditary cancer-predisposing syndrome 2019-01-30 criteria provided, single submitter clinical testing The c.2635-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 16 of the MSH2 gene. This alteration has been identified in identified in 1/369 Swedish Lynch syndrome families (Lagerstedt-Robinson K et al. Oncol. Rep. 2016 Nov;36:2823-2835). In addition to the clinical data presented in the literature, 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 a disease-causing mutation.
Myriad Genetics, Inc. RCV003449378 SCV004186746 likely pathogenic Lynch syndrome 1 2023-08-10 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.
Baylor Genetics RCV003449378 SCV004196847 pathogenic Lynch syndrome 1 2023-05-10 criteria provided, single submitter clinical testing

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