ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln) (rs202103893)

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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 RCV000171857 SCV000054788 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000211884 SCV000235646 likely benign not specified 2014-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000529543 SCV000639229 uncertain significance Dilated cardiomyopathy 1O 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 96 of the ABCC9 protein (p.Arg96Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs202103893, ExAC 0.004%). This variant has not been reported in the literature in individuals with a ABCC9-related disease. ClinVar contains an entry for this variant (Variation ID: 191591). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on ABCC9 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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