ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile)

gnomAD frequency: 0.00001  dbSNP: rs764692013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800466 SCV000940184 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 552 of the CPT1A protein (p.Val552Ile). This variant is present in population databases (rs764692013, gnomAD 0.01%). 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: 646226). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV000800466 SCV003829958 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-04-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000800466 SCV001456359 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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