ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1313T>A (p.Met438Lys)

gnomAD frequency: 0.00002  dbSNP: rs377616144
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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 RCV001041791 SCV001205430 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, a(n) neutral and non-polar amino acid, with lysine, a(n) basic and polar amino acid, at codon 438 of the CPT2 protein (p.Met438Lys). This variant is present in population databases (rs377616144, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 839921). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005021356 SCV005649073 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001041791 SCV002090299 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-12-09 no assertion criteria provided clinical testing

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