ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1892G>A (p.Arg631His)

gnomAD frequency: 0.00003  dbSNP: rs1009503062
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761467 SCV000891573 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-12-30 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV002533867 SCV003031173 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-06-01 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 631 of the CPT2 protein (p.Arg631His). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 623327). 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. This variant disrupts the p.Arg631 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1528846, 15754283, 16996287, 17651973). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Genome-Nilou Lab RCV003453576 SCV004178346 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000761467 SCV004178347 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453575 SCV004178348 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453574 SCV004178349 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609518 SCV005104628 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.1892G>A (p.R631H) alteration is located in exon 5 (coding exon 5) of the CPT2 gene. This alteration results from a G to A substitution at nucleotide position 1892, causing the arginine (R) at amino acid position 631 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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