ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.884G>A (p.Arg295His)

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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 RCV003085388 SCV003463140 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 295 of the CPT1A protein (p.Arg295His). This variant is present in population databases (rs756644326, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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