ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu)

gnomAD frequency: 0.00002  dbSNP: rs766600615
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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 RCV001221663 SCV001393722 uncertain significance Dilated cardiomyopathy 1O 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 67 of the ABCC9 protein (p.Pro67Leu). This variant is present in population databases (rs766600615, gnomAD 0.004%). This missense change has been observed in individual(s) with dilated cardiomyopathy and/or hypertrophic cardiomyopathy (PMID: 32746448; Invitae). ClinVar contains an entry for this variant (Variation ID: 950045). 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 ABCC9 protein function with a positive 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.
GeneDx RCV001751425 SCV001986458 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32746448)
New York Genome Center RCV001836973 SCV002097831 uncertain significance Hypertrichotic osteochondrodysplasia Cantu type 2021-02-05 criteria provided, single submitter clinical testing

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