ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)

gnomAD frequency: 0.00001  dbSNP: rs889632692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797134 SCV000936677 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 400 of the CPT1A protein (p.Gly400Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 643437). 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 not expected to disrupt 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.
Natera, Inc. RCV000797134 SCV001457991 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-03-11 no assertion criteria provided clinical testing

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