ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002638560 SCV003521296 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 75 of the CPT1A protein (p.Ala75Thr). This variant is present in population databases (rs771342676, gnomAD 0.003%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV002638559 SCV003683734 uncertain significance Inborn genetic diseases 2021-05-01 criteria provided, single submitter clinical testing The c.223G>A (p.A75T) alteration is located in exon 3 (coding exon 2) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 223, causing the alanine (A) at amino acid position 75 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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