ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs)

dbSNP: rs965061234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919366 SCV002192814 uncertain significance Aortic valve disease 2 2022-06-27 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. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg84Profs*43) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease.
Mayo Clinic Laboratories, Mayo Clinic RCV004793606 SCV005414287 likely pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing PM2, PVS1

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