ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln)

dbSNP: rs878856345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247132 SCV001420539 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 598 of the CPT1A protein (p.Arg598Gln). 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: 971366). 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.
Fulgent Genetics, Fulgent Genetics RCV001247132 SCV002816356 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-10-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247132 SCV002092947 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-10-29 no assertion criteria provided clinical testing

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