ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs) (rs786204252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168455 SCV000219152 pathogenic Hereditary nonpolyposis colon cancer 2018-09-05 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 4 of the MSH6 mRNA (c.1107_1108delTT), causing a frameshift at codon 370. This creates a premature translational stop signal (p.Leu370Argfs*4) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). ClinVar contains an entry for this variant (Variation ID: 188393). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491275 SCV000580308 pathogenic Hereditary cancer-predisposing syndrome 2015-10-27 criteria provided, single submitter clinical testing

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