Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001817690 | SCV002072252 | pathogenic | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001817690 | SCV002244402 | pathogenic | not provided | 2025-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys389Serfs*55) in the SLC45A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 142 amino acid(s) of the SLC45A2 protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 28976636, 29345414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1338319). This variant disrupts a region of the SLC45A2 protein in which other variant(s) (p.Val469*) have been determined to be pathogenic (PMID: 14961451, 29345414). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001817690 | SCV002562397 | pathogenic | not provided | 2024-12-09 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in one family from a cohort of families with cutaneous melanoma (PMID: 31233279); Frameshift variant predicted to result in abnormal protein length as the last 142 amino acids are replaced with 54 different amino acids, and other similar variants have been reported in HGMD; Also known as c.1164_1166delAA; This variant is associated with the following publications: (PMID: 18463683, 29345414, 28976636, 31233279, 36553465) |
Fulgent Genetics, |
RCV005040400 | SCV005671159 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR; Oculocutaneous albinism type 4 | 2024-04-23 | criteria provided, single submitter | clinical testing |