ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) (rs750149627)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456579 SCV000543782 uncertain significance Aortic valve disease 2 2016-08-11 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 1 of the SMAD6 mRNA (c.92_100delGTGGCGGCG). This leads to the deletion of 3 amino acid residue(s) in the SMAD6 protein (p.Gly31_Gly33del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SMAD6-related disease. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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