Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000086080 | SCV003439408 | pathogenic | not provided | 2022-05-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln301Argfs*9) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 22665969). This variant is also known as c.937delC. ClinVar contains an entry for this variant (Variation ID: 99674). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000086080 | SCV000118224 | not provided | not provided | no assertion provided | not provided |