Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729765 | SCV000857454 | pathogenic | not provided | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000779473 | SCV000916101 | likely pathogenic | Oculocutaneous albinism type 4 | 2018-08-13 | criteria provided, single submitter | clinical testing | The SLC45A2 c.264delC (p.Gly89AspfsTer24) variant has been reported in at least two studies and identified in a total of three individuals, including two homozygous siblings with oculocutaneous albinism (OCA) type 4 and C6 deficiency, and one compound heterozygous individual with OCA4 (Ikinciogullari et al. 2005; Wilk et al. 2014). The siblings also carried a homozygous nonsense variant in the C6 gene (Ikinciogullari et al. 2005). Control data are unavailable for this variant, which is reported at a frequency of 0.000293 in the African population of the Exome Aggregation Consortium. Based on the evidence and the potential impact of a frameshift variant, the p.Gly89AspfsTer24 variant is classified as likely pathogenic for oculocutaneous albinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Pele Pequeno Principe Research Institute, |
RCV000779473 | SCV000998904 | pathogenic | Oculocutaneous albinism type 4 | criteria provided, single submitter | research | ||
Gene |
RCV000729765 | SCV001167887 | pathogenic | not provided | 2022-04-25 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34174832, 34078970, 17767372, 26053207, 24845642, 31589614, 32411182, 15565285) |
Invitae | RCV000729765 | SCV002243246 | pathogenic | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly89Aspfs*24) in the SLC45A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is present in population databases (rs775387808, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 15565285, 28976636). ClinVar contains an entry for this variant (Variation ID: 242518). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV004567769 | SCV005056863 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 2024-03-29 | criteria provided, single submitter | clinical testing |