Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003472775 | SCV004201260 | pathogenic | Renal carnitine transport defect | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003472775 | SCV004292848 | pathogenic | Renal carnitine transport defect | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr387*) 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). This variant is present in population databases (rs72552731, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with autosomal recessive primary carnitine deficiency (PMID: 12204000). For these reasons, this variant has been classified as Pathogenic. |