ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser)

gnomAD frequency: 0.00001  dbSNP: rs760769734
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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 RCV001954695 SCV002195819 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 650 of the CPT1A protein (p.Gly650Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs760769734, ExAC 0.01%). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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