Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| EGL Genetic Diagnostics, |
RCV000085903 | SCV000228867 | pathogenic | not provided | 2015-03-10 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000680155 | SCV000807627 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic variant in a 3-year-old female with oculocutaneous albinism. Heterozygotes are expected to be asymptomatic carriers. |
| Fulgent Genetics, |
RCV000762870 | SCV000893250 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Foundation for Research in Genetics and Endocrinology, |
RCV000003974 | SCV000897701 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2019-02-27 | criteria provided, single submitter | clinical testing | The observed variant NM_000372.4 :c.1147G>A (p.Asp383Asn) is a missense variation found in exon 3 of the TYR gene. It is a known pathogenic variant and has been reported in the ExAC and gnomAD database with an allele frequency of 0.000165 and 0.00009358, respectively. The in silico prediction of this variant is disease causing by SIFT, PolyPhen2. The proband's parents are heterozygous carriers of the following mutations in the TYR gene: c.1147G>A (p.Asp383Asn) in exon 3 and c.1217C>T (p.pro406leu) in exon 4. As the parents are phenotypically normal, it is likely that these mutations are in a cis arrangement. The proband thus has both of the parent's mutations in trans with a third variant c.1110G>A, which is de novo. In summary, the variant meets the ACMG criteria to be classified as pathogenic based upon the evidence stated above. |
| OMIM | RCV000003974 | SCV000024139 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 1991-02-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000085903 | SCV000118046 | not provided | not provided | no assertion provided | not provided | ||
| University of Washington Center for Mendelian Genomics, |
RCV000755077 | SCV000882895 | likely pathogenic | Nonsyndromic Oculocutaneous Albinism | 2017-03-07 | no assertion criteria provided | research |