Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000373290 | SCV000330003 | pathogenic | not provided | 2017-08-28 | criteria provided, single submitter | clinical testing | The S166X variant in the TYRP1 gene has been reported previously in both the homozygous and compound heterozygous state, accounting for 45% of the pathogenic TYRP1 alleles identified in a group of 19 unrelated patients with rufous oculocutaneous albinism (Manga et al., 1997). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S166X variant is observed in 7/10400 (0.067%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). We interpret S166X as a pathogenic variant. |
Invitae | RCV000373290 | SCV002219365 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser166*) 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 (rs104894130, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 9345097). ClinVar contains an entry for this variant (Variation ID: 17594). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000019159 | SCV000039447 | pathogenic | Oculocutaneous albinism type 3 | 2008-09-15 | no assertion criteria provided | literature only | |
OMIM | RCV000019160 | SCV000039448 | risk factor | OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | 2008-09-15 | no assertion criteria provided | literature only |