ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)

dbSNP: rs869312767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210198 SCV000266077 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV000820368 SCV000961077 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-08-20 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 224532). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. This sequence change creates a premature translational stop signal (p.Arg9*) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816).
Ambry Genetics RCV002426985 SCV002742333 pathogenic Hereditary cancer-predisposing syndrome 2022-06-03 criteria provided, single submitter clinical testing The c.25_26delCGinsTA pathogenic mutation, located in coding exon 1 of the MLH1 gene, results from an in-frame deletion of CG and insertion of TA at nucleotide positions 25 and 26. This changes the amino acid from an arginine to a stop codon within coding exon 9 (p.R9*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003454551 SCV004189924 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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