Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512771 | SCV003525904 | pathogenic | not provided | 2022-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4506). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 16868655). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe374Serfs*24) 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). |
OMIM | RCV000004764 | SCV000024940 | pathogenic | Oculocutaneous albinism type 4 | 2006-01-01 | no assertion criteria provided | literature only |