ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1602G>A (p.Glu534=) (rs148110518)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085602 SCV000632592 likely benign Carnitine palmitoyltransferase II deficiency 2020-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757136 SCV000885260 likely benign not provided 2018-03-17 criteria provided, single submitter clinical testing The c.1602G>A; p.Glu534Glu variant (rs148110518, ClinVar variant ID 460425) does not alter the amino acid sequence of the CPT2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a Latino population frequency of 0.1% (identified on 37 out of 33,984 chromosomes). Based on the available information, the c.1602G>A variant is likely to be benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000757136 SCV001147287 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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