Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500963 | SCV000597808 | pathogenic | Oculocutaneous albinism type 3 | 2016-11-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000596345 | SCV000707887 | likely pathogenic | not provided | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596345 | SCV001823052 | likely pathogenic | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32581362, 28838317, 28041643) |
Invitae | RCV000596345 | SCV002230864 | pathogenic | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the TYRP1 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 TYRP1 are known to be pathogenic (PMID: 8651291, 9345097). This variant is present in population databases (rs140365820, gnomAD 0.08%). Disruption of this splice site has been observed in individual(s) with albinism (PMID: 28041643). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 437186). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
NIHR Bioresource Rare Diseases, |
RCV000504849 | SCV000599079 | likely pathogenic | Albinism | 2015-01-01 | no assertion criteria provided | research |