Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004171 | SCV001162979 | likely pathogenic | Renal carnitine transport defect | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001004171 | SCV001586789 | pathogenic | Renal carnitine transport defect | 2022-03-13 | 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: 813361). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser362Argfs*13) in the SLC22A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797). |
Genome- |
RCV001004171 | SCV002055819 | pathogenic | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing |