ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)

gnomAD frequency: 0.00093  dbSNP: rs77477448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000965846 SCV001113128 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001593152 SCV001816572 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003943146 SCV004766448 likely benign CPT1A-related disorder 2022-10-12 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).
Natera, Inc. RCV000965846 SCV001457995 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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