ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.371G>A (p.Arg124Gln)

gnomAD frequency: 0.00002  dbSNP: rs1131691925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668773 SCV000793426 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001377418 SCV001574746 likely pathogenic Carnitine palmitoyltransferase II deficiency 2022-09-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 CPT2 protein function. ClinVar contains an entry for this variant (Variation ID: 553350). This missense change has been observed in individual(s) with carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (PMID: 12673791). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 124 of the CPT2 protein (p.Arg124Gln).

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