Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606351 | SCV000712486 | likely pathogenic | Retinitis pigmentosa; Leber congenital amaurosis | 2016-09-05 | criteria provided, single submitter | clinical testing | The p.Val286ArgfsX98 variant in TULP1 has not been reported in patients and it w as absent from large population studies. This variant is predicted to cause a fr ameshift, which alters the protein?s amino acid sequence beginning at position 2 86 and leads to a premature termination codon 98 amino acids downstream. This al teration is then predicted to lead to a truncated or absent protein. Biallelic l oss of function in the TULP1 gene has been associated with retinal dystrophy (Le ber congenital amaurosis or juvenile retinitis pigmentosa). In summary, although additional studies are required to fully establish its clinical significance, t he p.Val286ArgfsX98 variant in TULP1 is likely pathogenic. |
Invitae | RCV003736838 | SCV004551595 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val286Argfs*98) 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 variant has not been reported in the literature in individuals affected with TULP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 505327). For these reasons, this variant has been classified as Pathogenic. |