ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10138del (p.Met3380fs)

dbSNP: rs1816735250
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057878 SCV001222397 uncertain significance Long QT syndrome 2019-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met3380Trpfs*50) in the AKAP9 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AKAP9-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AKAP9 cause disease. 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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