ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) (rs587780124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115881 SCV000186788 pathogenic Hereditary cancer-predisposing syndrome 2013-04-17 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)
GeneDx RCV000235213 SCV000149790 pathogenic not provided 2015-03-16 criteria provided, single submitter clinical testing This pathogenic variant is denoted SMAD4 c.1351_1375del25 at the cDNA level and p.Ala451LeufsX17 (A451LfsX17) at the protein level. The normal sequence with the bases that are deleted in brackets is GCAG[del25]CTGC. The deletion causes a frameshift, changing an Alanine to a Leucine at codon 451, and creating a premature stop codon at position 17 of the new reading frame. This variant is predicted to cause loss of normal protein function by way of protein truncation. SMAD4 c.1351_1375del25 has been reported as a somatic change in one colon tumor according to the Catalogue of Somatic Mutations in Cancer. Although this variant has not been previously reported as a germline pathogenic variant to our knowledge, it is considered pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000235213 SCV000692038 likely pathogenic not provided no assertion criteria provided clinical testing

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