ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) (rs267608092)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130275 SCV000185120 pathogenic Hereditary cancer-predisposing syndrome 2017-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503173 SCV000592635 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Invitae RCV000545922 SCV000624844 pathogenic Hereditary nonpolyposis colon cancer 2017-02-06 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 5 of the MSH6 mRNA (c.3312dupT), causing a frameshift at codon 1105. This creates a premature translational stop signal (p.Gly1105Trpfs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic. This particular variant has been reported in the literature in a family affected with Lynch syndrome (PMID: 21642682). For these reasons, this variant has been classified as Pathogenic.
Color RCV000130275 SCV000690344 pathogenic Hereditary cancer-predisposing syndrome 2016-10-12 criteria provided, single submitter clinical testing
ITMI RCV000121582 SCV000085778 not provided not specified 2013-09-19 no assertion provided reference population

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