ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)

dbSNP: rs869312781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210091 SCV000266129 pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444842 SCV002682766 pathogenic Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2014-10-23 criteria provided, single submitter clinical testing The c.886_895del10 pathogenic mutation, located in coding exon 6 of the SMAD4 gene, results from a deletion of 10 nucleotides between nucleotide positions 886 and 895, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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