ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser)

gnomAD frequency: 0.00020  dbSNP: rs138125299
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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 RCV001241948 SCV001415004 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034699 SCV004849783 uncertain significance Inborn genetic diseases 2022-02-07 criteria provided, single submitter clinical testing The c.1943T>C (p.F648S) alteration is located in exon 5 (coding exon 5) of the CPT2 gene. This alteration results from a T to C substitution at nucleotide position 1943, causing the phenylalanine (F) at amino acid position 648 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001241948 SCV002092685 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-11-11 no assertion criteria provided clinical testing

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