ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.648del (p.Arg217fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002361995 SCV002659135 pathogenic Hereditary cancer-predisposing syndrome 2022-09-16 criteria provided, single submitter clinical testing The c.648delT pathogenic mutation, located in coding exon 8 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 648, causing a translational frameshift with a predicted alternate stop codon (p.R217Afs*12). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003454179 SCV004187558 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-17 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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