Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000275675 | SCV000331201 | uncertain significance | not provided | 2015-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000635344 | SCV000756748 | uncertain significance | Renal carnitine transport defect | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 362 of the SLC22A5 protein (p.Ser362Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 20074989, 23520115). ClinVar contains an entry for this variant (Variation ID: 281066). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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- |
RCV000635344 | SCV002055856 | uncertain significance | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Giacomini Lab, |
RCV000635344 | SCV002576651 | uncertain significance | Renal carnitine transport defect | 2022-10-03 | criteria provided, single submitter | research | |
Baylor Genetics | RCV000635344 | SCV004203577 | likely pathogenic | Renal carnitine transport defect | 2024-03-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV002226461 | SCV002078344 | uncertain significance | Decreased circulating carnitine concentration | 2020-09-16 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000635344 | SCV002107466 | uncertain significance | Renal carnitine transport defect | 2020-09-16 | no assertion criteria provided | clinical testing | |
Cytogenetics- |
RCV002261028 | SCV002540198 | likely pathogenic | Dilated cardiomyopathy 1A | no assertion criteria provided | research |