Submissions for variant NM_001876.4(CPT1A):c.892G>A (p.Gly298Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003073794	SCV003448298	uncertain significance	Carnitine palmitoyl transferase 1A deficiency	2022-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 298 of the CPT1A protein (p.Gly298Arg). This variant is present in population databases (rs374202366, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics	RCV004070231	SCV004850247	uncertain significance	Inborn genetic diseases	2024-01-23	criteria provided, single submitter	clinical testing	The c.892G>A (p.G298R) alteration is located in exon 9 (coding exon 8) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 892, causing the glycine (G) at amino acid position 298 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.