Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554108 | SCV000632559 | pathogenic | Renal carnitine transport defect | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 202 of the SLC22A5 protein (p.Leu202Pro). This variant is present in population databases (rs142447950, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of primary carnitine deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 460410). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC22A5 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000554108 | SCV000895658 | uncertain significance | Renal carnitine transport defect | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000554108 | SCV002055849 | uncertain significance | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Giacomini Lab, |
RCV000554108 | SCV002576713 | uncertain significance | Renal carnitine transport defect | 2022-10-03 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV003480672 | SCV004227123 | uncertain significance | not provided | 2023-02-23 | criteria provided, single submitter | clinical testing | PP3 |
Natera, |
RCV000554108 | SCV001458332 | uncertain significance | Renal carnitine transport defect | 2020-05-01 | no assertion criteria provided | clinical testing |