ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)

dbSNP: rs1435045544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382563 SCV001581403 pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070426). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for CPT1A-related disease (PMID: 29519241). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg339*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268).
Baylor Genetics RCV001382563 SCV004211006 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001382563 SCV002092960 pathogenic Carnitine palmitoyl transferase 1A deficiency 2020-09-15 no assertion criteria provided clinical testing

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