ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.11229G>A (p.Met3743Ile) (rs143306820)

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Total submissions: 5
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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 RCV000171732 SCV000055248 likely benign not provided 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000310251 SCV000470360 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362669 SCV000470361 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617326 SCV000738122 uncertain significance Cardiovascular phenotype 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000362669 SCV000828788 uncertain significance Long QT syndrome 2018-02-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 3743 of the AKAP9 protein (p.Met3743Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs143306820, ExAC 0.01%). This variant has not been reported in the literature in individuals with AKAP9-related disease. ClinVar contains an entry for this variant (Variation ID: 191529). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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, 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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