ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.164G>A (p.Arg55His)

gnomAD frequency: 0.00010  dbSNP: rs770862902
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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 RCV001879753 SCV002250830 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 55 of the EARS2 protein (p.Arg55His). This variant is present in population databases (rs770862902, gnomAD 0.1%). This missense change has been observed in individual(s) with EARS2-related conditions (PMID: 22492562, 27290639). ClinVar contains an entry for this variant (Variation ID: 973075). 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 with a positive predictive value of 80%. This variant disrupts the p.Arg55 amino acid residue in EARS2. Other variant(s) that disrupt this residue have been observed in individuals with EARS2-related conditions (PMID: 33962821), which suggests that this may be a clinically significant amino acid residue. 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.
GenomeConnect, ClinGen RCV001249430 SCV001423433 not provided Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-02-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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