ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1046A>G (p.His349Arg)

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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 RCV003076346 SCV003448605 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-05-23 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 349 of the CPT1A protein (p.His349Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs753889040, ExAC 0.01%). This variant has not been reported in the literature in individuals with CPT1A-related disease. 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.

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