ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) (rs1060500751)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464263 SCV000543786 uncertain significance Aortic valve disease 2 2016-05-30 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides and inserts 3 in exon 1 of the SMAD6 mRNA (c.318_320delinsAGG). This leads to the deletion of 2 amino acid residues in the SMAD6 protein and the insertion of glutamic acid and glycine (p.Asp106_Val107delinsGluGly) but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. Experimental studies evaluating the effect of this in-frame deletion have not been published. In summary, this is a novel in-frame change with an unknown effect on protein function. For these reasons it has been classified as a Variant of Uncertain Significance.

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