ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) (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 palmitoyltransferase II deficiency, infantile 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001377418 SCV001574746 likely pathogenic Carnitine palmitoyltransferase II deficiency 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 124 of the CPT2 protein (p.Arg124Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (PMID: 12673791). ClinVar contains an entry for this variant (Variation ID: 553350). 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. 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.

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