ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.404dup (p.Lys136fs) (rs1553642079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531105 SCV000625154 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-04-11 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 5 of the MLH1 mRNA (c.404dupT), causing a frameshift at codon 136. This creates a premature translational stop signal (p.Lys136Glufs*5) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759088 SCV000888187 likely pathogenic not provided 2017-11-16 criteria provided, single submitter clinical testing

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