ClinVar Miner

Submissions for variant NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp)

gnomAD frequency: 0.00009  dbSNP: rs142213379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV000664175 SCV000784734 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV001313641 SCV001504142 uncertain significance Pulmonary hypertension, primary, 2 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 386 of the SMAD9 protein (p.Asn386Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs142213379, ExAC 0.01%). This missense change has been observed in individual(s) with pulmonary arterial hypertension and atrial septal defect (PMID: 30029678). This variant is also known as A1045G (p.N349D). ClinVar contains an entry for this variant (Variation ID: 548691). 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 expected to disrupt SMAD9 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.
Fulgent Genetics, Fulgent Genetics RCV001313641 SCV002792167 likely benign Pulmonary hypertension, primary, 2 2024-03-13 criteria provided, single submitter clinical testing

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