ClinVar Miner

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

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Total submissions: 3
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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)
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454250 SCV000538071 pathogenic Retinitis pigmentosa 14 2015-09-26 criteria provided, single submitter clinical testing
Retina International RCV000086071 SCV000118215 not provided not provided no assertion provided not provided

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