ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)

dbSNP: rs879253753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234963 SCV001580922 pathogenic KBG syndrome 2020-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2006Argfs*26) in the ANKRD11 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 been observed in individual(s) with clinical features of KBG syndrome (PMID: 27900361). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 242976). Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). For these reasons, this variant has been classified as Pathogenic.
Lyon Laboratory, Cold Spring Harbor Laboratory RCV000234963 SCV000292225 pathogenic KBG syndrome no assertion criteria provided research

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