ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)

dbSNP: rs1447391811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512941 SCV000608724 likely pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001366545 SCV001562851 uncertain significance Aortic valve disease 2 2020-03-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. This variant has not been reported in the literature in individuals with SMAD6-related conditions. ClinVar contains an entry for this variant (Variation ID: 444344). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Arg42*) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000512941 SCV002008368 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32499606)

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