ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)

gnomAD frequency: 0.00001  dbSNP: rs80356775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079915 SCV000111798 uncertain significance not provided 2012-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000055866 SCV005077376 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-04-05 criteria provided, single submitter clinical testing Variant summary: CPT1A c.367C>T (p.Arg123Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251302 control chromosomes (gnomAD). c.367C>T has been reported in the literature in a homozygous individual affected with Carnitine Palmitoyltransferase I Deficiency (Brown_2001). These data indicate that the variant may be associated with disease. This publication reports experimental evidence evaluating an impact on protein function. Fibroblasts from the patient had L-CPT I activity ~9% of control cells, while COS cells transfected with the variant showed ~72% of normal activity. The exogenously expressed variant protein had an aberrant molecular weight, suggesting that processing defects and degradation in vivo may explain this discrepancy. The following publication have been ascertained in the context of this evaluation (PMID: 11441142). ClinVar contains an entry for this variant (Variation ID: 65653). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000055866 SCV005630244 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-04-10 criteria provided, single submitter clinical testing
GeneReviews RCV000055866 SCV000086869 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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