ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-66_1146del (rs193922372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030236 SCV000052903 likely pathogenic Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000630184 SCV000751140 pathogenic Hereditary nonpolyposis colon cancer 2017-09-27 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing part of exon 7 of the MSH2 gene, including the intron 6-exon 7 boundary (c.1077-66_1146del). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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