ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1764-2A>G

gnomAD frequency: 0.00001  dbSNP: rs773032453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225852 SCV001398146 pathogenic not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the MSH3 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (rs773032453, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 953546). Studies have shown that disruption of this splice site results in skipping of exon 13, and produces a non-functional protein and/or introduces a premature termination codon (internal data). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003316834 SCV004020067 likely pathogenic Familial adenomatous polyposis 4 2023-02-07 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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