ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-125_1076+?dup1201

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000240262 SCV000299111 uncertain significance Lynch syndrome 2016-08-28 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-6 of the MSH2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the MSH2. This variant has not been reported in the literature in individuals with a MSH2-related disease. In summary, this is a novel duplication involving the first coding exon of the MSH2 gene. However, the genomic location and orientation of the duplicated sequence is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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