Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000527595 | SCV000632594 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 560 of the CPT2 protein (p.Arg560Gln). This variant is present in population databases (rs199996641, gnomAD 0.01%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase deficiency (PMID: 16996287). ClinVar contains an entry for this variant (Variation ID: 460426). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Counsyl | RCV000672447 | SCV000797553 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2018-02-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763963 | SCV000894914 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2024-03-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144325 | SCV003829961 | uncertain significance | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003456088 | SCV004178283 | uncertain significance | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000672447 | SCV004178284 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449551 | SCV004178285 | uncertain significance | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449550 | SCV004178286 | uncertain significance | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000527595 | SCV001454243 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |