ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)

dbSNP: rs777736953
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590880 SCV000700162 likely pathogenic Abdominal obesity-metabolic syndrome 3 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV001008670 SCV001168449 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing Observed de novo without confirmed parentage in multiple unrelated patients with features of Xia-Gibbs syndrome in published literature (Jiang et al., 2018); Nonsense 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 (Lek et al., 2016)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001008670 SCV001448028 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331484 SCV001523527 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2020-03-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Human Genetics, Universidade de São Paulo RCV001331484 SCV005201022 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2024-03-08 criteria provided, single submitter clinical testing PVS1, PS2, PM2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001331484 SCV001480355 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing
GeneReviews RCV001331484 SCV002032146 not provided AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion provided literature only Recurring pathogenic variant

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