ClinVar Miner

Submissions for variant NC_000016.10:g.89274957_89274959del

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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 RCV005154303 SCV005779775 likely pathogenic KBG syndrome 2024-10-13 criteria provided, single submitter clinical testing This variant, c.7570_7572del, results in the deletion of 1 amino acid(s) of the ANKRD11 protein (p.Glu2524del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ANKRD11-related conditions (PMID: 36446582). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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