ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)

gnomAD frequency: 0.00020  dbSNP: rs189174414
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169575 SCV000221077 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2015-01-23 criteria provided, single submitter literature only
Invitae RCV000169575 SCV001574869 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPT1A protein function. ClinVar contains an entry for this variant (Variation ID: 189151). This missense change has been observed in individual(s) with CPT1A-related conditions (PMID: 21962599). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs189174414, gnomAD 0.2%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 455 of the CPT1A protein (p.Lys455Thr).
Fulgent Genetics, Fulgent Genetics RCV000169575 SCV002778127 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-03-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169575 SCV004211010 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169575 SCV002092953 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-08-02 no assertion criteria provided clinical testing

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