ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile)

gnomAD frequency: 0.00001  dbSNP: rs1369067061
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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 RCV001941235 SCV002214697 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 649 of the CPT1A protein (p.Thr649Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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