ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)

dbSNP: rs1419095990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003647801 SCV004535384 uncertain significance Aortic valve disease 2 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 231 of the SMAD6 protein (p.Arg231Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SMAD6-related conditions (PMID: 30796334). ClinVar contains an entry for this variant (Variation ID: 590963). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SMAD6 protein function. 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.
Centre of Medical Genetics, University of Antwerp RCV000770955 SCV000854417 uncertain significance Aortic valve disease 1 2020-06-04 no assertion criteria provided research

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