ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)

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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 RCV003068842 SCV003456498 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 273 of the CPT1A protein (p.Gly273Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs144347513, ExAC 0.003%). This variant has been observed in individual(s) with a positive newborn screening result for CPT1A-related disease (Invitae). 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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