ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)

gnomAD frequency: 0.00036  dbSNP: rs374136875
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443677 SCV000529341 likely benign not specified 2016-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000939361 SCV001085203 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705572 SCV005219299 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003959953 SCV004775931 likely benign CPT1A-related disorder 2021-08-11 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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