ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro)

gnomAD frequency: 0.00001  dbSNP: rs749048646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591162 SCV001823981 likely pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); 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
GenomeConnect, ClinGen RCV000509178 SCV000606965 not provided Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome no assertion provided phenotyping only 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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