ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)

gnomAD frequency: 0.00034  dbSNP: rs150473213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501160 SCV000597098 uncertain significance not specified 2016-10-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156458 SCV001317957 uncertain significance Oculocutaneous albinism type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001764494 SCV002009057 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing Synonymous amino acid substitution; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 29345414, 28976636)
Labcorp Genetics (formerly Invitae), Labcorp RCV001764494 SCV002314299 pathogenic not provided 2024-01-27 criteria provided, single submitter clinical testing This sequence change affects codon 506 of the SLC45A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC45A2 protein. This variant is present in population databases (rs150473213, gnomAD 0.5%). This variant has been observed in individual(s) with ocular albinism (PMID: 29345414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 436756). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003935314 SCV004753832 likely benign SLC45A2-related disorder 2022-06-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Baylor Genetics RCV004568639 SCV005056864 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR 2024-03-24 criteria provided, single submitter clinical testing

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