Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001152649 | SCV001313871 | uncertain significance | Oculocutaneous albinism type 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Fulgent Genetics, |
RCV002491442 | SCV002796422 | uncertain significance | Skin/hair/eye pigmentation, variation in, 5; Oculocutaneous albinism type 4 | 2022-03-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002557292 | SCV003291251 | uncertain significance | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 348 of the SLC45A2 protein (p.Arg348Cys). This variant is present in population databases (rs372465070, gnomAD 0.006%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 17768386). ClinVar contains an entry for this variant (Variation ID: 904628). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |