ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)

gnomAD frequency: 0.00001  dbSNP: rs766819782
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563504 SCV001786460 likely pathogenic not provided 2021-01-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV001563776 SCV001786803 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-07-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV001563776 SCV002496115 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2020-05-14 criteria provided, single submitter clinical testing ACMG categories: PS5,PM1,PM2,PP4
Invitae RCV001563776 SCV003298157 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 106 of the CPT1A protein (p.Ser106Asn). This variant is present in population databases (rs766819782, gnomAD 0.005%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1199121). 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 with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen RCV001563504 SCV004137115 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing CPT1A: PM2, PP4:Moderate, PM3:Supporting

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