Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727563 | SCV000729998 | likely benign | not provided | 2018-12-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26828774, 28841266) |
Counsyl | RCV000022322 | SCV000795506 | uncertain significance | Renal carnitine transport defect | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727563 | SCV000854799 | uncertain significance | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022322 | SCV001414067 | uncertain significance | Renal carnitine transport defect | 2022-07-21 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 151 of the SLC22A5 protein (p.Val151Met). This variant is present in population databases (rs386134193, gnomAD 0.005%). This missense change has been observed in individual(s) with primary carnitine deficiency (ARUP database). ClinVar contains an entry for this variant (Variation ID: 25374). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change does not substantially affect SLC22A5 function (PMID: 28841266). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV000022322 | SCV002055746 | uncertain significance | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398557 | SCV004119522 | uncertain significance | SLC22A5-related condition | 2023-02-03 | criteria provided, single submitter | clinical testing | The SLC22A5 c.451G>A variant is predicted to result in the amino acid substitution p.Val151Met. This variant has been reported in a cohort of patients referred for carnitine deficiency. However, this variant retained significant residual carnitine transport activity in patient's fibroblast (Frigeni et al. 2017. PubMed ID: 28841266). This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-131714127-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |