ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3449T>A (p.Leu1150Ter) (rs1057517763)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413022 SCV000490622 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3449T>A at the cDNA level and p.Leu1150Ter (L1150X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000527691 SCV000624868 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1150*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 372413). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000575337 SCV000669920 pathogenic Hereditary cancer-predisposing syndrome 2019-02-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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