Submissions for variant NM_201253.3(CRB1):c.613_619del (p.Ile205fs) (rs62645752)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000986484	SCV001135496	pathogenic	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001047855	SCV001211837	pathogenic	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2020-01-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile205Aspfs*13) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 11231775, 29178642). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99913). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073493	SCV001239036	pathogenic	Retinal dystrophy	2019-04-01	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000086359	SCV001248707	pathogenic	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Retina International	RCV000086359	SCV000118504	not provided	not provided		no assertion provided	not provided
Retina International	RCV000086359	SCV000118505	not provided	not provided		no assertion provided	not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	RCV000787583	SCV000926563	likely pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet	RCV000787584	SCV000926564	likely pathogenic	Leber congenital amaurosis	2018-04-01	no assertion criteria provided	research
Laboratory of Genetics in Ophthalmology,Institut Imagine	RCV001250626	SCV001425497	pathogenic	Leber congenital amaurosis 8		no assertion criteria provided	research
Natera, Inc.	RCV000787584	SCV001460934	pathogenic	Leber congenital amaurosis	2020-09-16	no assertion criteria provided	clinical testing