Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001924022 | SCV002199377 | pathogenic | Renal carnitine transport defect | 2023-05-02 | 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: 10612840, 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: 1424767). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 10612840, 28711408). This variant is present in population databases (rs72552733, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 446 of the SLC22A5 protein (p.Val446Phe). |
Baylor Genetics | RCV001924022 | SCV004203596 | likely pathogenic | Renal carnitine transport defect | 2022-04-08 | criteria provided, single submitter | clinical testing |