ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1751A>G (p.His584Arg)

gnomAD frequency: 0.00001  dbSNP: rs750604350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635364 SCV000756772 likely benign Carnitine palmitoyltransferase II deficiency 2023-08-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781318 SCV000919250 uncertain significance not specified 2018-09-17 criteria provided, single submitter clinical testing Variant summary: CPT2 c.1751A>G (p.His584Arg) results in a non-conservative amino acid change located in the Choline/carnitine acyltransferase domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-05 in 246250 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in CPT2 causing Carnitine Palmitoyltransferase II Deficiency (4.1e-05 vs 0.0016), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1751A>G in individuals affected with Carnitine Palmitoyltransferase II Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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