ClinVar Miner

Submissions for variant NM_000098.2(CPT2):c.1634A>C (p.Glu545Ala) (rs17848485)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669380 SCV000794128 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-09-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723709 SCV000202564 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000723709 SCV000616690 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing The E545A variant in the CPT2 gene has been reported previously in an autopsy case study onmethamphetamine users and as a possible candidate gene for dyslipidemia, however E545A has notbeen reported in association with a CPT2-related disorder (Matsusue et al., 2011; Johansen et al.,2014). The E545A variant is observed in 20/3280 (0.6%) alleles from individuals of Finnishbackground, in the ExAC dataset (Lek et al., 2016). The E545A variant is a non-conservative aminoacid substitution, which is likely to impact secondary protein structure as these residues differ inpolarity, charge, size and/or other properties.This substitution occurs at a position that is conservedacross species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. We interpret E545A as a variant of uncertain significance.
Invitae RCV000549196 SCV000632593 likely benign Carnitine palmitoyltransferase II deficiency 2017-12-08 criteria provided, single submitter clinical testing

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