ClinVar Miner

Submissions for variant NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu)

gnomAD frequency: 0.00003  dbSNP: rs397514715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000050250 SCV004559563 likely benign Pulmonary hypertension, primary, 2 2023-06-07 criteria provided, single submitter clinical testing
OMIM RCV000050250 SCV000082859 pathogenic Pulmonary hypertension, primary, 2 2011-12-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003982871 SCV004797050 uncertain significance SMAD9-related disorder 2024-01-15 no assertion criteria provided clinical testing The SMAD9 c.127A>G variant is predicted to result in the amino acid substitution p.Lys43Glu. This variant has been reported in an individual with pulmonary arterial hypertension and functional studies were inconclusive as to the variant's effect on protein function (Nasim et al. 2011. PubMed ID: 21898662). This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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