ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003086970 SCV003486024 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 770 of the CPT1A protein (p.Asn770Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs747003369, ExAC 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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