Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003558630 | SCV004293297 | pathogenic | not provided | 2023-05-12 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with TULP1-related conditions (PMID: 24474277, 31456290). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812438). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp450*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821). |
Sharon lab, |
RCV001003239 | SCV001161318 | pathogenic | Leber congenital amaurosis | 2019-06-23 | no assertion criteria provided | research |