Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001783999 | SCV002240363 | pathogenic | not provided | 2025-01-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp117*) in the TYRP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYRP1 are known to be pathogenic (PMID: 8651291, 9345097). This variant is present in population databases (rs780433845, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with ocular albinism (internal data). ClinVar contains an entry for this variant (Variation ID: 1325324). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002506824 | SCV002815981 | likely pathogenic | Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR | 2024-03-07 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994327 | SCV004813670 | pathogenic | Oculocutaneous albinism type 3 | 2024-02-27 | criteria provided, single submitter | clinical testing | Variant summary: TYRP1 c.351G>A (p.Trp117X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 6e-05 in 250222 control chromosomes. To our knowledge, no occurrence of c.351G>A in individuals affected with Oculocutaneous albinism type 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1325324). Based on the evidence outlined above, the variant was classified as pathogenic. |