ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer)

dbSNP: rs63750309
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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) RCV000075349 SCV000106343 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002399448 SCV002711379 pathogenic Hereditary cancer-predisposing syndrome 2019-09-26 criteria provided, single submitter clinical testing The c.1748_1749delTT variant, located in coding exon 16 of the MLH1 gene, results from a deletion of two nucleotides at nucleotide positions 1748 to 1749, causing a translational frameshift with a predicted alternate stop codon (p.F583*). 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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