ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002741652 SCV003026610 uncertain significance not provided 2022-07-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs534853747, gnomAD 0.007%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EARS2 protein function. This variant has not been reported in the literature in individuals affected with EARS2-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 489 of the EARS2 protein (p.Arg489Trp).
OMIM RCV003487040 SCV004242169 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2024-01-26 no assertion criteria provided literature only

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