ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.378G>A (p.Ala126=)

dbSNP: rs138427304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV000873398 SCV002037606 benign Ethylmalonic encephalopathy 2020-08-18 reviewed by expert panel curation The filtering allele frequency of the c.378G>A variant in the ETHE1 gene is >0.2% by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Mito Variant Curation Expert Panel (BA1)
GeneDx RCV000433688 SCV000516811 benign not specified 2016-03-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000873398 SCV001015383 benign Ethylmalonic encephalopathy 2024-01-31 criteria provided, single submitter clinical testing

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