ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)

dbSNP: rs80356782
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694487 SCV000822935 pathogenic Carnitine palmitoyl transferase 1A deficiency 2020-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant has been observed as homozygous in an individual and a cousin who are both affected with carnitine palmitoyltransferase 1A deficiency (PMID: 15110323, 16146704). ClinVar contains an entry for this variant (Variation ID: 65654). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg160*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000694487 SCV002810298 pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-03-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000694487 SCV004211007 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-25 criteria provided, single submitter clinical testing
GeneReviews RCV000694487 SCV000086870 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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