Submissions for variant NM_024537.4(CARS2):c.499G>A (p.Glu167Lys)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001046042	SCV001209927	uncertain significance	Combined oxidative phosphorylation defect type 27	2021-08-28	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with lysine at codon 167 of the CARS2 protein (p.Glu167Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs753936012, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with CARS2-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"). 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.
New York Genome Center	RCV001046042	SCV002097968	uncertain significance	Combined oxidative phosphorylation defect type 27	2020-06-04	criteria provided, single submitter	clinical testing

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