ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser)

gnomAD frequency: 0.00016  dbSNP: rs555444012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239402 SCV001412277 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 113 of the CPT1A protein (p.Gly113Ser). This variant is present in population databases (rs555444012, gnomAD 0.02%). 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: 965043). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001545991 SCV001765426 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Natera, Inc. RCV001239402 SCV002092973 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-03-20 no assertion criteria provided clinical testing

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