ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.526del (p.Ile176fs)

dbSNP: rs1575449093
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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 RCV001023826 SCV001185755 pathogenic Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter clinical testing The c.526delA pathogenic mutation, located in coding exon 6 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 526, causing a translational frameshift with a predicted alternate stop codon (p.I176Ffs*26). This mutation has been detected in Japanese Lynch syndrome patients (Ishida H et al. J Anus Rectum Colon 2018; 2; Ikenoue T et al. J Hum Genet, 2019 Dec;64:1187-1194). In addition to the clinical data presented in the literature, 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. RCV003455125 SCV004186464 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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