Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178964 | SCV000231147 | uncertain significance | not provided | 2014-12-09 | criteria provided, single submitter | clinical testing | |
Invitae | 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 |