ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1387-2A>T

dbSNP: rs1573547594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452227 SCV004186075 likely pathogenic Lynch syndrome 1 2023-12-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003759863 SCV004407403 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-30 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with clinical features of autosomal dominant Lynch syndrome (Invitae). This sequence change affects an acceptor splice site in intron 8 of the MSH2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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