ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.912G>T (p.Gln304His)

gnomAD frequency: 0.00022  dbSNP: rs141553491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494621 SCV000582236 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The Q304H variant has not been published as a pathogenic variant, nor has it been reported as abenign variant to our knowledge. The Q304H variant is observed in 13/10346 (0.13%) alleles fromindividuals of African background in large population cohorts (Lek et al., 2016; 1000 GenomesConsortium et al., 2015; Exome Variant Server). The Q304H variant is a semi-conservative aminoacid substitution, which may impact secondary protein structure as these residues differ in someproperties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistentin its predictions as to whether or not the variant is damaging to the protein structure/function. Insummary, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000703217 SCV000832106 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527079 SCV003731030 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.912G>T (p.Q304H) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a G to T substitution at nucleotide position 912, causing the glutamine (Q) at amino acid position 304 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000703217 SCV001454123 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-17 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.