Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194448 | SCV000249342 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2015-04-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000194448 | SCV001821945 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003460785 | SCV004207570 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-09-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085972 | SCV004296110 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with ocular albinism (PMID: 13680365, 31077556). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 1 of the TYR gene. It does not directly change the encoded amino acid sequence of the TYR protein. It affects a nucleotide within the consensus splice site. This variant is also known as IVS1-3C>G. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 99582). |
Retina International | RCV000085972 | SCV000118115 | not provided | not provided | no assertion provided | not provided |