ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe)

gnomAD frequency: 0.00001  dbSNP: rs1484699196
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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 RCV001053393 SCV001217651 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 574 of the CPT1A protein (p.Leu574Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004609596 SCV005111840 uncertain significance Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing The c.1720C>T (p.L574F) alteration is located in exon 14 (coding exon 13) of the CPT1A gene. This alteration results from a C to T substitution at nucleotide position 1720, causing the leucine (L) at amino acid position 574 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001053393 SCV001456358 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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