ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs) (rs958818801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473672 SCV000543787 uncertain significance Aortic valve disease 2 2019-05-13 criteria provided, single submitter clinical testing This sequence change inserts 7 nucleotides in exon 1 of the SMAD6 mRNA (c.465_471dupCGGGCGG), causing a frameshift at codon 158. This creates a premature translational stop signal (p.Ser158Argfs*147) and is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a SMAD6-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV000851342 SCV000993646 likely pathogenic Radioulnar synostosis 2019-05-14 no assertion criteria provided case-control PVS1, PM2, PP4

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