ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)

gnomAD frequency: 0.00028  dbSNP: rs144760921
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635359 SCV000756767 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000657908 SCV000779674 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24503134, 29429925)
Fulgent Genetics, Fulgent Genetics RCV000763958 SCV000894909 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 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000635359 SCV001254829 uncertain significance Carnitine palmitoyltransferase II deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002529849 SCV003579532 uncertain significance Inborn genetic diseases 2022-03-07 criteria provided, single submitter clinical testing The c.500G>A (p.R167Q) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a G to A substitution at nucleotide position 500, causing the arginine (R) at amino acid position 167 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000635359 SCV002090265 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-03-09 no assertion criteria provided clinical testing

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