ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter)

dbSNP: rs200493039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003647808 SCV004514104 uncertain significance Aortic valve disease 2 2023-01-01 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 690426). This premature translational stop signal has been observed in individual(s) with nonsyndromic radioulnar synostosis (PMID: 31138930). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr350*) in the SMAD6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acid(s) of the SMAD6 protein.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV000851362 SCV000993666 uncertain significance Radioulnar synostosis 2019-05-14 no assertion criteria provided case-control PVS1, PM2, PP4, BS4
OMIM RCV002508151 SCV001318176 risk factor Radioulnar synostosis, nonsyndromic, susceptibility to 2020-05-27 no assertion criteria provided literature only

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