ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1511-13_1511-9delinsGT

dbSNP: rs1558510749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761187 SCV000891103 uncertain significance Lynch syndrome 2020-10-14 criteria provided, single submitter clinical testing The MSH2 c.1511-13_1511-9delinsGT variant is absent in gnomAD v2.1.1 (PM2_Supporting; http://gnomad.broadinstitute.org). SpliceAI and varSEAK predict a harmless effect on the gene or gene product with no impact on splicing (BP4), however these predictions have not been confirmed by functional studies and their clinical significance is uncertain. To our knowledge, this variant has not been reported in individuals with Lynch syndrome or constitutional mismatch repair deficiency. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting, BP4.
GeneDx RCV001692284 SCV001909173 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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