Submissions for variant NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs)

dbSNP: rs2034559427

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001572440	SCV001797080	pathogenic	not provided	2022-12-05	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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34971082, 25473036, 31703437, 32124548)
Autoinflammatory diseases unit, CHU de Montpellier	RCV001261248	SCV001438083	pathogenic	KBG syndrome	2019-02-27	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004740642	SCV005341464	pathogenic	ANKRD11-related disorder	2024-03-14	no assertion criteria provided	clinical testing	The ANKRD11 c.1385_1388delCAAA variant is predicted to result in a frameshift and premature protein termination (p.Thr462Lysfs*47). This variant has been reported as a de novo variant in at least one individual with KBG syndrome (Soden et al. 2014. PubMed ID: 25473036; Gnazzo et al. 2020. PubMed ID: 32124548; Digilio et al. 2021. PubMed ID: 34971082). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.