ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)

gnomAD frequency: 0.00003  dbSNP: rs769448704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195273 SCV000248916 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765837 SCV000897232 uncertain significance SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517978 SCV003460754 likely pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 442 of the SLC45A2 protein (p.Pro442Leu). This variant is present in population databases (rs769448704, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of ocular albinism (PMID: 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: 212205). 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%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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