ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)

dbSNP: rs3733808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001156457 SCV001317956 uncertain significance Oculocutaneous albinism type 4 2017-10-10 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001316603 SCV001507234 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 507 of the SLC45A2 protein (p.Val507Leu). This variant is present in population databases (rs3733808, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 14961451, 21458243, 30019506). ClinVar contains an entry for this variant (Variation ID: 906958). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC45A2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001156457 SCV005418373 likely pathogenic Oculocutaneous albinism type 4 criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4

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