Submissions for variant NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)

dbSNP: rs61749670

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000693446	SCV000821316	pathogenic	Cone-rod dystrophy 6; Leber congenital amaurosis 1	2023-12-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro130Leufs*36) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is present in population databases (rs61749670, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 8944027, 20683928). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98602). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV000084897	SCV001989328	pathogenic	not provided	2021-10-28	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; This variant is associated with the following publications: (PMID: 24265693, 8944027, 20683928, 20604683, 31814694, 32865313, 31736247, 32094338)
Fulgent Genetics, Fulgent Genetics	RCV002498447	SCV002811552	pathogenic	Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i	2021-09-30	criteria provided, single submitter	clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV000009945	SCV003803836	pathogenic	Leber congenital amaurosis 1		criteria provided, single submitter	clinical testing
OMIM	RCV000009945	SCV000030166	pathogenic	Leber congenital amaurosis 1	1998-08-01	no assertion criteria provided	literature only
Retina International	RCV000084897	SCV000117033	not provided	not provided		no assertion provided	not provided
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003037	SCV001161094	likely pathogenic	Leber congenital amaurosis	2019-06-23	no assertion criteria provided	research
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV000009945	SCV001426309	pathogenic	Leber congenital amaurosis 1		no assertion criteria provided	research