ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)

gnomAD frequency: 0.00004  dbSNP: rs1424284180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841296 SCV000983257 likely benign not provided 2018-04-03 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 RCV001413559 SCV001615678 likely benign Carnitine palmitoyl transferase 1A deficiency 2022-09-15 criteria provided, single submitter clinical testing

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