Total submissions: 2
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. |