ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.851G>A (p.Arg284His)

gnomAD frequency: 0.00017  dbSNP: rs144866081
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697594 SCV000826214 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-10-17 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 284 of the CPT1A protein (p.Arg284His). This variant is present in population databases (rs144866081, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 575393). 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 CPT1A 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.
Eurofins Ntd Llc (ga) RCV000732851 SCV000860846 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000732851 SCV001812783 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29429925)
Fulgent Genetics, Fulgent Genetics RCV000697594 SCV002816955 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-07-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000697594 SCV003829954 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000697594 SCV001457996 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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