Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513827 | SCV000610106 | pathogenic | not provided | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000022381 | SCV000799728 | uncertain significance | Renal carnitine transport defect | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000513827 | SCV001247715 | pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022381 | SCV001416144 | pathogenic | Renal carnitine transport defect | 2023-08-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 28841266). 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. ClinVar contains an entry for this variant (Variation ID: 25425). This missense change has been observed in individual(s) with carnitine deficiency (PMID: 12210323). This variant is present in population databases (rs386134222, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 470 of the SLC22A5 protein (p.Ser470Phe). |
Centogene AG - |
RCV000022381 | SCV001424486 | pathogenic | Renal carnitine transport defect | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000022381 | SCV002055779 | likely pathogenic | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Giacomini Lab, |
RCV000022381 | SCV002576583 | likely pathogenic | Renal carnitine transport defect | 2022-10-03 | criteria provided, single submitter | research | |
Baylor Genetics | RCV000022381 | SCV004203600 | likely pathogenic | Renal carnitine transport defect | 2022-01-04 | criteria provided, single submitter | clinical testing |