Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376338 | SCV001573452 | likely pathogenic | Retinitis pigmentosa 14 | 2021-04-08 | criteria provided, single submitter | research | The TULP1 c.99+1G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Invitae | RCV000086081 | SCV003439409 | pathogenic | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 99675). This variant is also known as IVS2+1G>A. Disruption of this splice site has been observed in individuals with TULP1-related conditions (PMID: 9462750, 15024725). This variant is present in population databases (rs281865166, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 2 of the TULP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821). |
OMIM | RCV001376338 | SCV000027986 | pathogenic | Retinitis pigmentosa 14 | 2004-04-01 | no assertion criteria provided | literature only | |
OMIM | RCV001255922 | SCV000044477 | pathogenic | Leber congenital amaurosis 15 | 2004-04-01 | no assertion criteria provided | literature only | |
Retina International | RCV000086081 | SCV000118225 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Genetics in Ophthalmology, |
RCV001255922 | SCV001432530 | pathogenic | Leber congenital amaurosis 15 | no assertion criteria provided | research |