Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001949561 | SCV002247342 | pathogenic | not provided | 2024-12-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr268Leufs*8) in the SLC45A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is present in population databases (rs753041550, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SLC45A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458648). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV005032020 | SCV005671170 | likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 | 2024-06-11 | criteria provided, single submitter | clinical testing |