ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.235C>T (p.Pro79Ser) (rs768026366)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170626 SCV000223178 likely benign not specified 2013-11-04 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.
Invitae RCV000686763 SCV000814296 uncertain significance Long QT syndrome 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 79 of the AKAP9 protein (p.Pro79Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs768026366, ExAC 0.05%). This variant has not been reported in the literature in individuals with AKAP9-related disease. ClinVar contains an entry for this variant (Variation ID: 190500). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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