ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.149_150del (p.Pro50fs)

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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. RCV002310462 SCV002602448 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form 2022-01-02 criteria provided, single submitter clinical testing NM_000098.2(CPT2):c.149_150delCC(P50Qfs*8) is expected to be pathogenic in the context of carnitine palmitoyltransferase II deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CPT2, 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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