ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs)

dbSNP: rs281864936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075204 SCV000106195 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002390217 SCV002701791 pathogenic Hereditary cancer-predisposing syndrome 2019-01-14 criteria provided, single submitter clinical testing The c.1413_1416delGAGA pathogenic mutation, located in coding exon 13 of the MLH1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1413 to 1416, causing a translational frameshift with a predicted alternate stop codon (p.K471Nfs*19). 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.

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