ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.290T>C (p.Met97Thr)

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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 RCV002630042 SCV003522711 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 97 of the CPT1A protein (p.Met97Thr). This variant is present in population databases (rs376120378, gnomAD 0.003%). This missense change has been observed in individual(s) with a positive newborn screening result for CPT1A-related disease (Invitae). 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. 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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