ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47403067)_(47408555_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463373 SCV000563898 pathogenic Lynch syndrome 2016-12-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the MSH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene. The 3' boundary is likely confined to intron 2 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. Deletions of exons 1-2 have been reported in many individuals and families affected with Lynch syndrome (PMID: 16143124, 20587412, 16086322, 22883484, 12494471). It has also been shown to segregate with Lynch syndrome-associated cancers in a family (PMID: 12694232). For these reasons, this variant has been classified as Pathogenic.

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