ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.4837A>G (p.Met1613Val) (rs193922723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202769 SCV000258029 uncertain significance not specified 2015-07-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029318 SCV000051964 likely benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000542732 SCV000627738 uncertain significance Long QT syndrome 2017-04-14 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1613 of the AKAP9 protein (p.Met1613Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs193922723, ExAC 0.002%) but has not been reported in the literature in individuals with a AKAP9-related disease. ClinVar contains an entry for this variant (Variation ID: 35670). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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