ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) (rs17848485)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 2019-11-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported as heterozygous in an asymptomatic infant with a positive newborn screen for CPT2 deficiency where another variant in CPT2 was not detected (Tajima et al., 2017); This variant is associated with the following publications: (PMID: 29429925, 26636822, 24503134, 20952238, 28801073, 28074886)
Invitae RCV001085202 SCV000632593 likely benign Carnitine palmitoyltransferase II deficiency 2020-11-17 criteria provided, single submitter clinical testing
Counsyl RCV000669380 SCV000794128 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085202 SCV001253046 likely benign Carnitine palmitoyltransferase II deficiency 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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