ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.143G>C (p.Ser48Thr)

gnomAD frequency: 0.00001  dbSNP: rs1250983045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011374 SCV002299924 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-02-14 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with CPT2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with threonine at codon 48 of the CPT2 protein (p.Ser48Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.

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