ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1045dup (p.Thr349fs)

dbSNP: rs1599195433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986024 SCV001134822 pathogenic not provided 2019-06-04 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.
Ambry Genetics RCV002400160 SCV002709879 pathogenic Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2019-07-16 criteria provided, single submitter clinical testing The c.1045dupA pathogenic mutation, located in coding exon 8 of the SMAD4 gene, results from a duplication of A at nucleotide position 1045, causing a translational frameshift with a predicted alternate stop codon (p.T349Nfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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