ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.379G>A (p.Val127Ile)

gnomAD frequency: 0.00004  dbSNP: rs199545795
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060923 SCV001225643 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 127 of the CPT2 protein (p.Val127Ile). This variant is present in population databases (rs199545795, 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: 855620). 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. 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.
Baylor Genetics RCV001332187 SCV001524426 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2019-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002479360 SCV002791896 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2021-10-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145320 SCV003829965 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455278 SCV004179318 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001332187 SCV004179319 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455277 SCV004179321 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455276 SCV004179322 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001060923 SCV002090262 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-08-03 no assertion criteria provided clinical testing

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