ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) (rs201727231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254773 SCV000321576 pathogenic not provided 2015-04-22 criteria provided, single submitter clinical testing The R516Q variant has been previously published in association with leukoencephalopathy with thalmus and brainstem involvement and high lactate (LTBL) in a patient who was compound heterozygous for the two mutations (Steenweg et al., 2012). This patient was described as having a severe phenotype with hypotonia, impaired psychomotor development, dystonia, vision problems, elevated lactate, and seizures (Steenweg et al., 2012). The R516Q variant is a non-conservative amino acid substitution of a positively charged residue with an uncharged residue. We interpret this variant as pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763375 SCV000894072 likely pathogenic Combined oxidative phosphorylation deficiency 12 2018-10-31 criteria provided, single submitter clinical testing

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