ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.428C>G (p.Ser143Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700053 SCV005205534 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2024-06-24 criteria provided, single submitter clinical testing Variant summary: EARS2 c.428C>G (p.Ser143X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2e-05 in 248880 control chromosomes. To our knowledge, no occurrence of c.428C>G in individuals affected with Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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