ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu)

gnomAD frequency: 0.00002  dbSNP: rs561244283
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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 RCV001878982 SCV002143853 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 175 of the CPT1A protein (p.Pro175Leu). This variant is present in population databases (rs561244283, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1371399). 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 disruptive. 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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