Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753356 | SCV002004947 | uncertain significance | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29345414) |
Labcorp Genetics |
RCV001753356 | SCV002124249 | uncertain significance | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 523 of the SLC45A2 protein (p.Ala523Thr). This variant is present in population databases (rs371334000, gnomAD 0.009%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414). 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: 1318809). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Breakthrough Genomics, |
RCV001753356 | SCV005189450 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Fulgent Genetics, |
RCV005038309 | SCV005671149 | uncertain significance | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 | 2024-03-20 | criteria provided, single submitter | clinical testing |