ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)

gnomAD frequency: 0.00016  dbSNP: rs61731905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505913 SCV000603220 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing The c.1770G>A variant (rs61731905) has not been previously associated with any mitochondrial. This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.003% (identified in71 out of 246,118 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.8.1), does not alter the amino acid sequence of CPT1A protein, and is not predicted to alter CPT1A mRNA splicing (Alamut software v 2.8.1). Therefore, the c.1770G>A variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000693494 SCV000821365 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403187 SCV004122859 likely benign not specified 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962409 SCV004784666 likely benign CPT1A-related disorder 2020-06-10 no assertion criteria provided 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).

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