ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1400del (p.Ser467fs) (rs1064795515)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478279 SCV000571395 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing This deletion of one nucleotide in MLH1 is denoted c.1400delG at the cDNA level and p.Ser467ThrfsX24 (S467TfsX24) at the protein level. The normal sequence, with the base that is deleted in braces, is TCCA[G]CAAC. The deletion causes a frameshift which changes a Serine to a Threonine at codon 467, and creates a premature stop codon at position 24 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.
Ambry Genetics RCV000574078 SCV000676012 pathogenic Hereditary cancer-predisposing syndrome 2016-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478279 SCV001134290 pathogenic not provided 2019-04-04 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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