ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu)

gnomAD frequency: 0.00001  dbSNP: rs776782808
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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 RCV001244969 SCV001418226 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 622 of the CPT1A protein (p.Pro622Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs776782808, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001244969 SCV001466868 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-04-16 no assertion criteria provided clinical testing

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