ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro)

gnomAD frequency: 0.00004  dbSNP: rs749544685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001775706 SCV002012530 uncertain significance not provided 2022-04-25 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: 25326637)
Labcorp Genetics (formerly Invitae), Labcorp RCV001775706 SCV002146405 pathogenic not provided 2024-01-15 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 485 of the SLC45A2 protein (p.Leu485Pro). This variant is present in population databases (rs749544685, gnomAD 0.03%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 25326637; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 242519). 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 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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