ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys)

gnomAD frequency: 0.00002  dbSNP: rs144664137
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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 RCV000698958 SCV000827649 uncertain significance Combined oxidative phosphorylation defect type 27 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 489 of the CARS2 protein (p.Glu489Lys). This variant is present in population databases (rs144664137, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 576455). 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.
Ambry Genetics RCV003258934 SCV003945665 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.1465G>A (p.E489K) alteration is located in exon 14 (coding exon 14) of the CARS2 gene. This alteration results from a G to A substitution at nucleotide position 1465, causing the glutamic acid (E) at amino acid position 489 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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