Submissions for variant NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)

dbSNP: rs587779766

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000190364	SCV000243814	pathogenic	not provided	2022-12-23	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27884935, 24791903, 27148574, 29696776, 28252636, 36054313, 33644933)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000235041	SCV000292300	pathogenic	Delayed speech and language development; Sleep apnea; Hypotonia	2014-05-01	criteria provided, single submitter	clinical testing
Molecular Genetics Lab, CHRU Brest	RCV000119838	SCV004697761	pathogenic	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		criteria provided, single submitter	clinical testing
Whole genome laboratory; Baylor College of Medicine	RCV000144167	SCV000148377	pathogenic	Global developmental delay; Delayed speech and language development; Intellectual disability; Neonatal hypotonia; Sleep apnea	2014-04-17	no assertion criteria provided	clinical testing
OMIM	RCV000119838	SCV000154764	pathogenic	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2014-05-01	no assertion criteria provided	literature only
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	RCV000119838	SCV001480349	pathogenic	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		no assertion criteria provided	clinical testing
GeneReviews	RCV000119838	SCV002032145	not provided	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		no assertion provided	literature only	Recurring pathogenic variant