ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)

gnomAD frequency: 0.00001  dbSNP: rs397517190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038617 SCV000062295 uncertain significance not specified 2012-05-02 criteria provided, single submitter clinical testing The Val1451Ala variant (ABCC9) has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and SIFT) suggest that the variant may i mpact the protein but PolyPhen-2 predicts it to be benign. However, though this information is not predictive enough to determine pathogenicity. In summary, add itional information is needed to fully assess the clinical significance of the V al1451Ala variant.
Blueprint Genetics RCV000208433 SCV000263747 uncertain significance Primary dilated cardiomyopathy 2015-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852810 SCV002182031 uncertain significance Dilated cardiomyopathy 1O 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1451 of the ABCC9 protein (p.Val1451Ala). This variant is present in population databases (rs397517190, gnomAD 0.006%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 45414). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCC9 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.

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