ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys)

dbSNP: rs1854621732
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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 RCV001958299 SCV002224649 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1445595). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 638 of the CPT1A protein (p.Glu638Lys). 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 CPT1A 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.

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