ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs) (rs876658821)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218055 SCV000274558 pathogenic Hereditary cancer-predisposing syndrome 2015-03-19 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)
Invitae RCV000538190 SCV000625075 pathogenic Hereditary nonpolyposis colon cancer 2017-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu509Profs*5) in the MLH1 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 MLH1-related disease. ClinVar contains an entry for this variant (Variation ID: 230876). Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985777 SCV001134292 pathogenic not provided 2019-06-11 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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