Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987685 | SCV001137102 | pathogenic | Leber congenital amaurosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002550602 | SCV003313173 | pathogenic | not provided | 2023-05-14 | 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 802207). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 33851411). This variant is present in population databases (rs773968778, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Tyr520*) in the TULP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the TULP1 protein. |