Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807177 | SCV000947219 | pathogenic | Creatine transporter deficiency | 2021-01-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SLC6A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 651752). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala153Glyfs*36) in the SLC6A8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC6A8 are known to be pathogenic (PMID: 22281021). |