ClinVar Miner

Submissions for variant NM_001167618.2(MLH1):c.-59del (rs63750385)

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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) RCV000075797 SCV000106809 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000075797 SCV000255270 pathogenic Lynch syndrome 2015-02-17 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 8 of the MLH1 mRNA (c.665delA), causing a frameshift at codon 222. This creates a premature translational stop signal (p.Asn222Metfs*7) and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in the literature. This variant has been reported in families affected with Lynch syndrome and Muir-Torre syndrome (PMID: 24344984, 12660027, 10733117). ClinVar contains an entry for this variant (RCV000075797). For these reasons, this variant has been classified as Pathogenic.

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