ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)

gnomAD frequency: 0.00001  dbSNP: rs80356777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000055853 SCV002261269 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-11-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs80356777, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 357 of the CPT1A protein (p.Arg357Trp). This missense change has been observed in individual(s) with CPT1 deficiency (PMID: 11441142). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects CPT1A function (PMID: 11441142). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPT1A protein function. ClinVar contains an entry for this variant (Variation ID: 65640).
Baylor Genetics RCV000055853 SCV004211011 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-03-23 criteria provided, single submitter clinical testing
GeneReviews RCV000055853 SCV000086849 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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