ClinVar Miner

Submissions for variant NM_001258271.1(MLH1):c.1896+1323_1896+1324del (rs63750859)

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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) RCV000075524 SCV000106520 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV001008104 SCV001167853 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The c.2092_2093delTC variant in the MLH1 gene has been reported previously in association with Lynch syndrome (Mangold et al., 2005; Spaepen et al., 2006; Rossi et al., 2017). The c.2092_2093delTC variant causes a frameshift starting with codon Serine 698, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser698ArgfsX5. This variant is predicted to cause loss of normal protein function through protein truncation as the last 59 amino acids are lost and replaced with 4 incorrect amino acids. The c.2092_2093delTC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2092_2093delTC as a pathogenic variant.

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