ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val)

dbSNP: rs2153997775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009258 SCV002288059 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 478 of the CPT1A protein (p.Ala478Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with carnitine palmitoyltransferase I deficiency (PMID: 23700290). 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: "Possibly 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.

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