ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)

gnomAD frequency: 0.00003  dbSNP: rs751557097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054616 SCV001218961 likely pathogenic Carnitine palmitoyltransferase II deficiency 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 605 of the CPT2 protein (p.Val605Leu). This variant is present in population databases (rs751557097, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of carnitine palmitoyltransferase II deficiency (PMID: 18363739, 28649538). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 850446). 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 not expected to disrupt CPT2 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV003473653 SCV004211053 pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001054616 SCV001454246 likely pathogenic Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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