ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln)

gnomAD frequency: 0.00085  dbSNP: rs147276580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521689 SCV000618018 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing The K458Q variant in the CPT2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K458Q variant is observed in 37/10370 (0.36%) alleles from individuals of African background in the ExAC dataset, and no individuals were reported to be homozygous (Lek et al., 2016). The K458Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K458Q as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085292 SCV000632586 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334222 SCV001527011 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000521689 SCV001715290 uncertain significance not provided 2023-04-21 criteria provided, single submitter clinical testing

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