Submissions for variant NM_003322.6(TULP1):c.1495+1G>A (rs281865168)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000454167	SCV000538070	pathogenic	Leber congenital amaurosis 15	2015-09-26	criteria provided, single submitter	clinical testing	he c.1495+1 G>A canonical splice-donor variant in the TULP1 gene has been previously reported to co-segregate with disease in two Dominican family pedigrees and all individuals (n=33) who were diagnosed with arRP within these two pedigrees were found to be homozygous for the variant (Banerjee P et al., 1998; Lewis CA et al., 1999). An in vitro splicing assay (Abbasi AH et al, 2008) showed that the variant results in aberrant splicing. In a mouse model, the G>T transversion at this locus also resulted in abnormal RNA splicing products (Noben-Trauth K et al., 1996). Additionally, computational algorithms predict evolutionary conservation at this locus and a loss of the splice-donor site. The frequency of this variant is absent in the population databases (1000 Genome, Exome Sequencing Project and ExAC)
Blueprint Genetics	RCV001075035	SCV001240646	pathogenic	Retinal dystrophy	2018-05-04	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000086071	SCV001248680	pathogenic	not provided	2018-01-01	criteria provided, single submitter	clinical testing
Retina International	RCV000086071	SCV000118215	not provided	not provided		no assertion provided	not provided
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000454250	SCV000538071	pathogenic	Retinitis pigmentosa 14	2015-09-26	no assertion criteria provided	clinical testing