ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)

gnomAD frequency: 0.00001  dbSNP: rs1165511243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052557 SCV001216771 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 483 of the CPT1A protein (p.His483Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of CPT1A-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001759787 SCV001987020 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002553285 SCV003597211 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.1449C>A (p.H483Q) alteration is located in exon 12 (coding exon 11) of the CPT1A gene. This alteration results from a C to A substitution at nucleotide position 1449, causing the histidine (H) at amino acid position 483 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001052557 SCV002092950 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-02-26 no assertion criteria provided clinical testing

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