ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.939G>A (p.Pro313=)

gnomAD frequency: 0.00008  dbSNP: rs144403747
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304145 SCV001493415 uncertain significance Aortic valve disease 2 2023-02-04 criteria provided, single submitter clinical testing This sequence change affects codon 313 of the SMAD6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMAD6 protein. This variant is present in population databases (rs144403747, gnomAD 0.03%). 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: 577521). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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