ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.458-?_3556+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457329 SCV000563986 pathogenic Lynch syndrome 2016-05-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-6 of the MSH6 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a MSH6-related disease. Although the integrity of the reading frame is preserved, this deletion is expected to result in the loss of 1033 amino acid residues of the MSH6 protein (p.Ser154_Gly1186del). Deletion of this region results in the loss of the N-terminal portion of the MSH2 interaction region and the ATP-binding domain, two regions that are important for MSH6 protein function (PMID: 9774676, 12019211, 9564049). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000457329 SCV000591005 pathogenic Lynch syndrome criteria provided, single submitter clinical testing

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