Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173665 | SCV000224804 | uncertain significance | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000173665 | SCV002300544 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the OCA2 gene. It does not directly change the encoded amino acid sequence of the OCA2 protein. This variant is present in population databases (rs755604671, gnomAD 0.009%). This variant has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 193572). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000173665 | SCV002599650 | likely pathogenic | not provided | 2024-04-03 | criteria provided, single submitter | clinical testing | RNA studies demonstrate a damaging effect: skipping of exon 10 (PMID: 37650133); This variant is associated with the following publications: (PMID: 37650133, 34838614, 29345414, 38076877) |
Laboratoire de Génétique Moléculaire, |
RCV003128232 | SCV003804569 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV003468853 | SCV004208984 | likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV003150966 | SCV003839800 | uncertain significance | not specified | 2022-08-18 | no assertion criteria provided | clinical testing | DNA sequence analysis of the OCA2 gene demonstrated a sequence change in intron 9, c.1045-9T>G. This change has been described in the homozygous state in an individual with oculocutaneous albinism (PMID: 29345414). This sequence change has been described in the gnomAD database with a frequency of 0.0021% in the overall population (dbSNP rs755604671). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined. |