ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.416_417insTCTTGGTG (p.Glu139fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306495 SCV002602522 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-01-14 criteria provided, single submitter clinical testing NM_001876.3(CPT1A):c.416_417ins8(E139Dfs*8) is expected to be pathogenic in the context of carnitine palmitoyltransferase IA deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CPT1A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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