ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer)

dbSNP: rs1575414321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985785 SCV001134307 pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001240989 SCV001413978 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-12-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant has not been reported in the literature in individuals with MLH1-related conditions. This sequence change deletes 12 nucleotides and inserts 8 nucleotides in exon 3 of the MLH1 mRNA (c.232_243delinsATGTAAGG), causing a frameshift at codon 78. This creates a premature translational stop signal (p.Glu78Metfs*2) and is expected to result in an absent or disrupted protein product.

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