ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.593G>A (p.Gly198Asp)

gnomAD frequency: 0.00002  dbSNP: rs201259497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757487 SCV002007678 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27019209, 34662886, 18463683, 28976636)
Labcorp Genetics (formerly Invitae), Labcorp RCV001757487 SCV002212594 pathogenic not provided 2024-08-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 198 of the SLC45A2 protein (p.Gly198Asp). This variant is present in population databases (rs201259497, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 18463683, 28976636, 29345414; Invitae). 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: 1316040). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC45A2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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