ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV004557277 SCV005046457 pathogenic KBG syndrome criteria provided, single submitter clinical testing The variant was detected in a 13-years-old boy with autistic behavior, seizure, neurodevelopment delay and short stature. The c.2947_2948del variant in the exon 9 of ANKRD11 (NM_013275.6) results in a premature termination codon producing a truncated protein (p.Ser983TrpfsTer34). This variant is not detected in general population has not been previously reported in pathogenicity data bases (Clinvar, HGMD). In silico tools predict that this variant affects the function of the protein and label it as pathogenic. A genetic study has been carried out in the parents and it is determined that none of them presents the variant, so it appears de novo in our patient. Pathogenic variants in ANKRD11 have been associated with KBG Syndrome (OMIM: 148050), with autosomal dominant inheritance.

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