ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)

dbSNP: rs63751639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075401 SCV000106396 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV001013518 SCV001174114 pathogenic Hereditary cancer-predisposing syndrome 2019-07-15 criteria provided, single submitter clinical testing The c.1884_1888delGGAAA pathogenic mutation, located in coding exon 16 of the MLH1 gene, results from a deletion of 5 nucleotides at nucleotide positions 1884 to 1888, causing a translational frameshift with a predicted alternate stop codon (p.L628Ffs*2). (Kruse R et al. Am. J. Hum. Genet., 1998 Jul;63:63-70,).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.
CeGaT Center for Human Genetics Tuebingen RCV003311676 SCV004011455 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing MLH1: PVS1, PM2

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