ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr)

gnomAD frequency: 0.00001  dbSNP: rs201446439
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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 RCV001341008 SCV001534847 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-01-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 98 of the CPT1A protein (p.Ser98Thr). This variant is present in population databases (rs201446439, gnomAD 0.002%). 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: 1037796). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. RCV001341008 SCV002092976 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-11-15 no assertion criteria provided clinical testing

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