ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)

dbSNP: rs753485165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263225 SCV000457086 uncertain significance Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing The c.1076_1077delAG (p.Glu359ValfsTer85) variant is a frameshift variant that is predicted to cause premature truncation of the protein. The p.Glu359ValfsTer85 variant was identified in one study in a compound heterozygous state in one patient who was described as having a clinical diagnosis of oculocutaneous albinism type 1B and a molecular diagnosis of oculocutaneous albinism type 4 (Hutton & Spritz 2008). Control data are unavailable for this variant, which is reported at a frequency of 0.00045 in the European (Non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence and due to the potential impact of frameshift variants, the p.Glu359ValfsTer85 variant is classified as a variant of unknown significance but suspicious for pathogenicity for oculocutaneous albinism.
Genetic Services Laboratory, University of Chicago RCV000501440 SCV000597104 pathogenic Oculocutaneous albinism type 4 2016-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850867 SCV002239490 pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu359Valfs*85) in the SLC45A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 172 amino acid(s) of the SLC45A2 protein. This variant is present in population databases (rs753485165, gnomAD 0.07%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 18463683). This variant is also known as c.1074-1077delAG. This variant disrupts a region of the SLC45A2 protein in which other variant(s) (p.Pro419Leu) have been determined to be pathogenic (PMID: 19865097, 21287499, 28976636). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005033892 SCV005671163 pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2024-03-13 criteria provided, single submitter clinical testing

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