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 2022-09-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 45414). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). This variant is present in population databases (rs397517190, gnomAD 0.006%). 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). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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