ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1404G>T (p.Gln468His)

dbSNP: rs140771069
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665230 SCV000789314 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868201 SCV002276247 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-05-04 criteria provided, single submitter clinical testing 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. 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 expected to disrupt CPT2 protein function. This variant has not been reported in the literature in individuals with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 550475). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 468 of the CPT2 protein (p.Gln468His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Genome-Nilou Lab RCV003451635 SCV004179525 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665230 SCV004179526 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451634 SCV004179527 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451633 SCV004179528 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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