Submissions for variant NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) (rs62638214)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000086036	SCV000890304	pathogenic	not provided	2018-12-24	criteria provided, single submitter	clinical testing	The R621X variant in the GRM6 gene has been reported previously in the homozygous state in an individual with congenital stationary night blindness (Dryja et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R621X variant is observed in 44/276352 (0.016%) global alleles in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R621X as a pathogenic variant.
Blueprint Genetics	RCV001074243	SCV001239816	pathogenic	Retinal dystrophy	2019-04-29	criteria provided, single submitter	clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV000006197	SCV001437088	pathogenic	Congenital stationary night blindness, type 1B		criteria provided, single submitter	clinical testing	20A1176
OMIM	RCV000006197	SCV000026379	pathogenic	Congenital stationary night blindness, type 1B	2005-03-29	no assertion criteria provided	literature only
Retina International	RCV000086036	SCV000118179	not provided	not provided		no assertion provided	not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	RCV000787608	SCV000926592	pathogenic	Leber congenital amaurosis	2018-04-01	no assertion criteria provided	research