ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.4985C>T (p.Ala1662Val) (rs149244653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170612 SCV000223164 uncertain significance not specified 2016-10-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the AKAP9 gene. The A1662V variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project, the 1000 Genomes Project, and ExAC report A1662V was observed in 0.1-0.2% of alleles from individuals of African ancestry, indicating it may be a rare benign variant in this population. Additionally, the A1662V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals. Consequently, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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