ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47482779)_(47482949_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000501558 SCV000254414 uncertain significance Lynch syndrome 2016-12-19 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 16 of the MSH2 gene. It is expected to result in the loss of the terminal 56 amino acids of the MSH2 protein. This deletion has been reported in the literature in individuals affected with Lynch syndrome and endometrial cancer (PMID: 24278394, 15942939, 18931482, 24323032). Segregation studies have not been reported for this variant. This variant is also known as c.2635+?_(*3084)del, and c.2635-?_( 272_?)del in the literature. In summary, this variant leads to loss of the last exon of the MSH2 gene. This deletion has been reported in affected patients, but it is not known whether it affects MSH2 protein function or segregates with disease. For these reasons, this change has been classified as a Variant of Uncertain Significance.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501558 SCV000591000 pathogenic Lynch syndrome 2014-08-14 criteria provided, single submitter clinical testing

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