ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.*55G>T

gnomAD frequency: 0.00160  dbSNP: rs201842186
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Total submissions: 4
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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 RCV000263835 SCV001994851 benign Ethylmalonic encephalopathy 2020-08-18 reviewed by expert panel curation The filtering allele frequency of the c.55G>T variant in the ETHE1 gene is >0.7% 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)
Illumina Laboratory Services, Illumina RCV000263835 SCV000413485 uncertain significance Ethylmalonic encephalopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV000263835 SCV001737253 uncertain significance Ethylmalonic encephalopathy 2021-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717257 SCV005308069 benign not provided criteria provided, single submitter not provided

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