ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn)

gnomAD frequency: 0.00003  dbSNP: rs763888954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989545 SCV001139976 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549729 SCV002934569 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 803227). 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 missense change has been observed in individual(s) with clinical features of mitochondrial disease (PMID: 33258288). This variant is present in population databases (rs763888954, gnomAD 0.04%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 415 of the EARS2 protein (p.Asp415Asn).

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