ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)

gnomAD frequency: 0.00006  dbSNP: rs121912619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178964 SCV000231147 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178964 SCV002158012 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 361 of the SLC45A2 protein (p.Leu361Pro). This variant is present in population databases (rs121912619, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 14722913, 29345414, 34078970; 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: 4499). 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 with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004757 SCV000024933 pathogenic Oculocutaneous albinism type 4 2004-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755709 SCV005346467 likely pathogenic SLC45A2-related disorder 2024-08-02 no assertion criteria provided clinical testing The SLC45A2 c.1082T>C variant is predicted to result in the amino acid substitution p.Leu361Pro. This variant has been reported in the homozygous and compound heterozygous states in individuals with oculocutaneous albinism (gene referred to as MATP in Rundshagen et al. 2004. PubMed ID: 14722913; Kruijt et al. 2021. PubMed ID: 34078970). This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Given the evidence, we interpret this variant as likely pathogenic.

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