Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000085946 | SCV000704173 | pathogenic | not provided | 2017-01-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001588918 | SCV001821926 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000085946 | SCV004296101 | pathogenic | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr113Argfs*55) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs61753254, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 10987646). For these reasons, this variant has been classified as Pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004800286 | SCV005422260 | pathogenic | Oculocutaneous albinism | 2024-10-14 | criteria provided, single submitter | clinical testing | Variant summary: TYR c.338_339delCA (p.Thr113ArgfsX55) 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 8e-06 in 251356 control chromosomes (gnomAD). c.338_339delCA has been reported in the literature in individuals affected with Oculocutaneous Albinism (e.g. Passmore_1999). The following publication has been ascertained in the context of this evaluation (PMID: 10987646). ClinVar contains an entry for this variant (Variation ID: 99563). Based on the evidence outlined above, the variant was classified as pathogenic. |
Fulgent Genetics, |
RCV005008005 | SCV005631914 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-04-06 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085946 | SCV000118089 | not provided | not provided | no assertion provided | not provided |