ClinVar Miner

Submissions for variant NM_001167618.2(MLH1):c.-354_-353TG[1] (rs587779006)

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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) RCV000075670 SCV000106672 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding variation introducing premature termination codon
GeneDx RCV000485841 SCV000570936 pathogenic not provided 2016-07-11 criteria provided, single submitter clinical testing This deletion of two nucleotides in MLH1 is denoted c.372_373delTG at the cDNA level and p.Ala125IlefsX15 (A125IfsX15) at the protein level. The normal sequence, with the bases that are deleted in braces, is AGTG[TG]CATA. The deletion causes a frameshift which changes an Alanine to an Isoleucine at codon 125, and creates a premature stop codon at position 15 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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