ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.62C>A (p.Pro21His)

gnomAD frequency: 0.00004  dbSNP: rs1399429530
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671811 SCV000796833 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001855568 SCV002132112 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 21 of the CPT2 protein (p.Pro21His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with CPT2-related conditions (PMID: 22494076). ClinVar contains an entry for this variant (Variation ID: 555898). 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.
Genome-Nilou Lab RCV003453334 SCV004178258 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000671811 SCV004178259 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453333 SCV004178260 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453332 SCV004178261 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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