ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.3318+13C>A

gnomAD frequency: 0.03055  dbSNP: rs73403768
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336078 SCV000470229 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192821 SCV001361189 benign not specified 2019-09-03 criteria provided, single submitter clinical testing Variant summary: AKAP9 c.3318+13C>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.007 in 242494 control chromosomes in the gnomAD database, including 91 homozygotes. The observed variant frequency is well above the estimated maximal expected allele frequency for a pathogenic variant in AKAP9 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. One submitter has provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001712761 SCV001944423 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058676 SCV002457706 benign Long QT syndrome 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253389 SCV002524828 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712761 SCV005220977 likely benign not provided criteria provided, single submitter not provided

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