ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)

dbSNP: rs863225296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989659 SCV001140191 likely pathogenic Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 2019-05-28 criteria provided, single submitter clinical testing
DASA RCV000201945 SCV002061195 likely pathogenic KBG syndrome 2022-01-05 criteria provided, single submitter clinical testing The variant creates a premature translational stop signal c.7180C>T;p.(Gln2394*) in ANKRD11 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs863225296, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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