ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7758del (p.Gln2586fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216561 SCV001388364 uncertain significance KBG syndrome 2019-06-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ANKRD11 gene (p.Gln2586Hisfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the ANKRD11 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Cornelia de Lange syndrome (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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