Description
This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 59 of the SMAD3 protein (p.Asn59Asp). This variant is present in population databases (rs745387614, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of SMAD3-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 373708). 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) performed at Invitae indicates that this missense variant is not expected to disrupt SMAD3 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.
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |