ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3696dup (p.Lys1233Ter) (rs1553333017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560496 SCV000624900 pathogenic Hereditary nonpolyposis colon cancer 2017-05-17 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 8 of the MSH6 mRNA (c.3696dupT), causing a frameshift at codon 1233. This creates a premature translational stop signal (p.Lys1233*) 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 an individual with colon cancer (PMID: 24158095). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000573138 SCV000670083 pathogenic Hereditary cancer-predisposing syndrome 2017-05-31 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)

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