ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)

gnomAD frequency: 0.00002  dbSNP: rs376950905
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083739 SCV000563328 likely benign Long QT syndrome 2023-10-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508496 SCV000602464 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing The p.Arg2016Cys variant (rs376950905) has not been reported in the medical literature nor has it been previously identified in our laboratory; however, it is listed in the ClinVar database as likely benign (Variation ID: 417028). It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in Latino populations of 0.092% (identified in 31 out of 33,520 chromosomes). The arginine at codon 2016 is highly conserved considering 11 species up to Cow (Alamut software v2.9), although several species of bat and marsupial mammals have a cysteine at this position suggesting this change is evolutionary tolerated. Likewise, computational analyses suggest this variant does not have a significant effect on AKAP9 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: polymorphism). However, based on the available information, the clinical significance of the p.Arg2016Cys variant cannot be determined with certainty.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853016 SCV000995773 likely benign Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001778972 SCV002015036 likely benign not specified 2021-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356758 SCV002657789 benign Cardiovascular phenotype 2023-12-05 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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