Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193557 | SCV000248367 | pathogenic | Tyrosinase-positive oculocutaneous albinism | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000302408 | SCV000329444 | pathogenic | not provided | 2023-07-13 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Published functional studies demonstrate the use of a cryptic splice donor site within intron 14, with sequencing of aberrant transcript demonstrating it results in a frameshift, starting with codon Glycine 502, changing this amino acid to a Valine residue, and creating a premature Stop codon at position 84 of the new reading frame, denoted p.Gly502ValfsX84 (Rimoldi et al., 2014).; This variant is associated with the following publications: (PMID: 15712365, 10649493, 24361966, 31077556) |
Molecular Diagnostics Laboratory, |
RCV000193557 | SCV000891285 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000762939 | SCV000893362 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000193557 | SCV002040575 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000302408 | SCV002235033 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 14 of the OCA2 gene. It does not directly change the encoded amino acid sequence of the OCA2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368124046, gnomAD 0.01%). This variant has been observed in individuals with oculocutaneous albinism (PMID: 24361966, 29345414; Invitae). ClinVar contains an entry for this variant (Variation ID: 211768). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 24361966). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003468884 | SCV004208974 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2023-10-23 | criteria provided, single submitter | clinical testing |