ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser)

gnomAD frequency: 0.00001  dbSNP: rs766209790
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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 RCV001339138 SCV001532859 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 39 of the CPT1A protein (p.Trp39Ser). This variant is present in population databases (rs766209790, gnomAD 0.003%). 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: 1036168). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPT1A protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001339138 SCV002786805 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001339138 SCV002092980 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-10-15 no assertion criteria provided clinical testing

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