ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1235G>A (p.Arg412His)

gnomAD frequency: 0.00001  dbSNP: rs753827689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837659 SCV002098237 uncertain significance not provided 2022-02-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
OMIM RCV003487010 SCV004242168 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2024-01-26 no assertion criteria provided literature only

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