ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4471G>A (p.Glu1491Lys)

gnomAD frequency: 0.00001  dbSNP: rs1296165234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784100 SCV002025603 uncertain significance KBG syndrome 2020-06-11 criteria provided, single submitter clinical testing The heterozygous p.Glu1491Lys variant identified in ANKRD11 has not been reported in the literature in individuals with ANKRD11-related disorder. The variant is absent from gnomAD database indicating it’s an extremely rare allele in the general population. The variant affects a moderately conserved residue and is predicted neutral by multiple In Silico prediction tools. Based on the available evidence, the p.Glu1491Lys variant in the ANKRD11 gene is assessed as a variant of uncertain significance.

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