ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup)

dbSNP: rs774732566
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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 RCV000799946 SCV000939637 uncertain significance Aortic valve disease 2 2023-10-11 criteria provided, single submitter clinical testing This variant, c.761_763dup, results in the insertion of 1 amino acid(s) of the SMAD6 protein (p.Ala254dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774732566, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. ClinVar contains an entry for this variant (Variation ID: 645791). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001776011 SCV002013865 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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