ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)

gnomAD frequency: 0.00006  dbSNP: rs201425412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224019 SCV000280790 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002494610 SCV002775199 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-07-07 criteria provided, single submitter clinical testing
Invitae RCV002494610 SCV003239601 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020717 SCV004850244 likely benign Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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