ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro)

dbSNP: rs1855050882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278055 SCV003282539 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 533 of the CPT1A protein (p.Ser533Pro). This variant is not present in population databases (gnomAD no frequency). 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: 990109). 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.
Natera, Inc. RCV001278055 SCV001465048 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-08-14 no assertion criteria provided clinical testing

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