ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.84del (p.Ala29fs)

dbSNP: rs587779045
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075885 SCV000106901 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Counsyl RCV000662604 SCV000785242 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444534 SCV002678534 pathogenic Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing The c.84delA pathogenic mutation, located in coding exon 1 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 84, causing a translational frameshift with a predicted alternate stop codon (p.A29Lfs*7). 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.
Invitae RCV002514346 SCV003234132 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-09-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 90392). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala29Leufs*7) 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).
Myriad Genetics, Inc. RCV000662604 SCV004018134 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-14 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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