ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551873 SCV001772468 pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27620904)
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004783937 SCV005397710 pathogenic KBG syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence variant is a four-nucleotide deletion (delTGAG) in exon 9 of 13 of the ANKRD11 gene and results in an early termination signal 194 amino acids downstream of the frameshift at codon 1123. This variant is predicted to generate a non-functional allele through either the expression of a truncated protein or a loss of ankyrin repeat domain containing 11 expression due to nonsense mediated decay. This is a previously reported variant (ClinVar 978397) that has been observed in individuals affected by KGB syndrome (PMID: 27620904, 35970914). This variant is absent from the gnomAD v4 population database (0 of 833110 alleles). Haploinsufficiency in ANKRD11 is a known mechanism of disease (PMID: 29565525). Based upon the evidence, we consider this variant to be pathogenic. ACMG Criteria: PM2, PS4, PVS1
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257006 SCV001433562 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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