Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022287 | SCV000920215 | likely pathogenic | Renal carnitine transport defect | 2018-05-24 | criteria provided, single submitter | clinical testing | Variant summary: SLC22A5 c.-91_22del113 deletes the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. The variant, c.-91_22del113, has been reported in the literature in two homozygous siblings affected with Systemic Primary Carnitine Deficiency, indicating that the variant may be associated with disease (Nezu_1999). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, though a submission prior to 2014 was reported as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| OMIM | RCV000022287 | SCV000026974 | pathogenic | Renal carnitine transport defect | 1999-01-01 | no assertion criteria provided | literature only |