ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter)

dbSNP: rs886041620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000326515 SCV000330317 pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation 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: 28191890, 30152016, 28135719, 33644933)
CeGaT Center for Human Genetics Tuebingen RCV000326515 SCV004704286 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing AHDC1: PS2, PVS1:Strong, PM2, PS4:Moderate
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001563687 SCV001480344 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome no assertion criteria provided clinical testing

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