ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) (rs780732891)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779472 SCV000916100 uncertain significance Oculocutaneous albinism type 4 2017-04-28 criteria provided, single submitter clinical testing The SLC45A2 c.1567_1574dupGCTCTCTT (p.Phe525LeufsTer16) variant results in a frameshift and is predicted to cause an elongation of the protein. This variant has been reported in a heterozygous state in one patient with oculocutaneous albinism (Rundshagen et al. 2004). The p.Phe525LeufsTer16 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium in a region of good sequencing coverage, thus the variant is presumed to be rare. Based on the limited evidence and the potential impact of frameshift variants, the p.Phe525LeufsTer16 variant is classified as a variant of unknown significance but suspicious for pathogenicity for oculocutaneous albinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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