ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.143G>A (p.Ser48Asn)

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 RCV001348111 SCV001542399 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-02-09 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. ClinVar contains an entry for this variant (Variation ID: 1043933). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 48 of the CPT2 protein (p.Ser48Asn).

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