ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn)

gnomAD frequency: 0.00001  dbSNP: rs773338089
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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 RCV001895582 SCV002152060 uncertain significance Aortic valve disease 2 2023-03-27 criteria provided, single submitter clinical testing 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 SMAD6 protein function. ClinVar contains an entry for this variant (Variation ID: 1383892). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is present in population databases (rs773338089, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 295 of the SMAD6 protein (p.Asp295Asn). 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.
Ambry Genetics RCV002370441 SCV002683432 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.883G>A (p.D295N) alteration is located in exon 3 (coding exon 3) of the SMAD6 gene. This alteration results from a G to A substitution at nucleotide position 883, causing the aspartic acid (D) at amino acid position 295 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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