ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.461del (p.Asp154fs)

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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 RCV002342508 SCV002636600 pathogenic Hereditary cancer-predisposing syndrome 2021-08-23 criteria provided, single submitter clinical testing The c.461delA pathogenic mutation, located in coding exon 6 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 461, causing a translational frameshift with a predicted alternate stop codon (p.D154Afs*6). 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. RCV003454156 SCV004187569 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-14 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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