ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val)

gnomAD frequency: 0.00001  dbSNP: rs587780849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123579 SCV000166918 benign not specified 2011-07-14 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.
Ambry Genetics RCV003352776 SCV004053259 uncertain significance Cardiovascular phenotype 2023-07-27 criteria provided, single submitter clinical testing The p.I1944V variant (also known as c.5830A>G), located in coding exon 24 of the AKAP9 gene, results from an A to G substitution at nucleotide position 5830. The isoleucine at codon 1944 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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