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 2019-01-23 criteria provided, single submitter clinical testing The c.264delC variant in the SLC45A2 gene has been reported previously in the homozygous state in two siblings with oculocutaneous albinism (Ikinciogullari et al., 2005). The c.264delC variant causes a frameshift starting with codon Glycine 89, changes this amino acid to a Aspartic acid residue, and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Gly89AspfsX24. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.264delC variant is observed in 24/276838 (0.009%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). We interpret c.264delC as a pathogenic variant.

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