ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.283delT (p.Ser95Leufs) (rs1064795441)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576330 SCV000677873 likely pathogenic Lynch syndrome II 2017-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000482037 SCV000571247 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing This deletion of one nucleotide in MLH1 is denoted c.283delT at the cDNA level and p.Ser95LeufsX13 (S95LfsX13) at the protein level. The normal sequence, with the base that is deleted in braces, is TATT[T]CTAC. The deletion causes a frameshift which changes a Serine to a Leucine at codon 95, and creates a premature stop codon at position 13 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.
Invitae RCV000629893 SCV000750849 pathogenic Hereditary nonpolyposis colon cancer 2017-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser95Leufs*13) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MLH1-related disease. ClinVar contains an entry for this variant (Variation ID: 421912). 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 RCV000482037 SCV000601392 likely pathogenic not provided 2017-01-15 criteria provided, single submitter clinical testing

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