ClinVar Miner

Submissions for variant NM_016180.3(SLC45A2):c.264delC (rs775387808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729765 SCV000857454 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 2021-09-21 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: 32411182, 24845642, 15565285, 17767372, 26053207)

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