ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)

gnomAD frequency: 0.00001  dbSNP: rs201223488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171853 SCV000050874 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002500446 SCV002777372 uncertain significance Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 2021-09-01 criteria provided, single submitter clinical testing
Invitae RCV003765078 SCV004612918 uncertain significance Dilated cardiomyopathy 1O 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 739 of the ABCC9 protein (p.Pro739Ala). This variant is present in population databases (rs201223488, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ABCC9-related conditions. ClinVar contains an entry for this variant (Variation ID: 191587). 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 ABCC9 protein function with a negative predictive value of 95%. 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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