ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.623A>G (p.Asn208Ser)

gnomAD frequency: 0.00001  dbSNP: rs1274903903
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350932 SCV001545360 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 208 of the CPT2 protein (p.Asn208Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1046379). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV003145606 SCV003829964 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449985 SCV004179377 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449982 SCV004179378 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449984 SCV004179379 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449983 SCV004179380 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001350932 SCV002090272 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-12 no assertion criteria provided clinical testing

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