ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.790+1del

dbSNP: rs267607798
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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) RCV000075849 SCV000106861 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Ambry Genetics RCV000564973 SCV000676022 pathogenic Hereditary cancer-predisposing syndrome 2016-07-15 criteria provided, single submitter clinical testing The c.790+1delG intronic pathogenic mutation is located one nucleotide after coding exon 9 and results from the deletion of one nucleotide (G) within intron 9 of the MLH1 gene. This alteration has been reported in multiple individuals and families with Lynch syndrome related tumors. Furthermore, results from immunohistochemistry and microsatellite instability analyses in probands from these reported families were consistent with an MLH1 gene mutation (Mangold E et al. Int J Cancer. 2005 Sep 20;116(5):692-702; Mueller-Koch Y et al. Gut. 2005 Dec;54(12):1733-40). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001249904 SCV001423921 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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