ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.264del (p.Gly89fs)

gnomAD frequency: 0.00011  dbSNP: rs775387808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729765 SCV000857454 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina 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, Faculdades Pequeno Principe RCV000779473 SCV000998904 pathogenic Oculocutaneous albinism type 4 criteria provided, single submitter research
GeneDx 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.

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