ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly)

dbSNP: rs1264713147
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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 RCV002029592 SCV002302197 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 695 of the CPT1A protein (p.Glu695Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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. 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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