ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs)

dbSNP: rs1575536219
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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 RCV001010451 SCV001170651 pathogenic Hereditary cancer-predisposing syndrome 2024-02-29 criteria provided, single submitter clinical testing The c.1230_1232delCATinsTG pathogenic mutation, located in coding exon 12 of the MLH1 gene, results from the deletion of three nucleotides and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.I411Vfs*80). 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.
Ding PR Lab, Sun Yat-sen University Cancer Center RCV001093672 SCV001250853 likely pathogenic Lynch syndrome 1 no assertion criteria provided clinical testing

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