ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10889-8T>A

dbSNP: rs770001257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170660 SCV000223213 likely benign not specified 2013-04-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000540353 SCV000627612 uncertain significance Long QT syndrome 2017-03-08 criteria provided, single submitter clinical testing This sequence change falls in intron 40 of the ANK2 gene. It does not directly change the encoded amino acid sequence of the ANK2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ANK2-related disease. ClinVar contains an entry for this variant (Variation ID: 190531). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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