ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.793-1G>A (rs863225397)

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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 RCV000491505 SCV000580598 pathogenic Hereditary cancer-predisposing syndrome 2015-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (B-level) evidence supporting pathogenicity,in silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbSNP, ESP, 1000 Genomes)
Color RCV000491505 SCV000690132 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-04 criteria provided, single submitter clinical testing
Invitae RCV000703166 SCV000832053 likely pathogenic Hereditary nonpolyposis colon cancer 2018-09-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the MSH2 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 reported in individuals with Lynch syndrome (PMID: 27601186, 20052760). This variant is also referred as c.861-1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 218048). Donor and acceptor splice site variants 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). 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202050 SCV000257196 likely pathogenic not provided no assertion criteria provided research

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