ClinVar Miner

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

gnomAD frequency: 0.00037  dbSNP: rs148110518
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085602 SCV000632592 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-29 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 Center for Human Genetics Tuebingen RCV000757136 SCV001147287 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942769 SCV004759285 likely benign CPT2-related disorder 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000757136 SCV001928673 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000757136 SCV001968627 likely benign not provided no assertion criteria provided clinical testing

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