ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr)

gnomAD frequency: 0.00001  dbSNP: rs1306340710
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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 RCV001246345 SCV001419692 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 19 of the CPT1A protein (p.Ile19Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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: "Benign"; 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 RCV003284123 SCV003958635 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.56T>C (p.I19T) alteration is located in exon 2 (coding exon 1) of the CPT1A gene. This alteration results from a T to C substitution at nucleotide position 56, causing the isoleucine (I) at amino acid position 19 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001246345 SCV002092981 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-05-18 no assertion criteria provided clinical testing

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