ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys)

gnomAD frequency: 0.00003  dbSNP: rs201848368
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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 RCV001897744 SCV002157441 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1384647). 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 variant is present in population databases (rs201848368, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 82 of the EARS2 protein (p.Arg82Cys).
3billion RCV003152775 SCV003841859 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.004%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.98). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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