ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.505+264T>G

gnomAD frequency: 0.08112  dbSNP: rs117069120
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Total submissions: 2
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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 RCV001759633 SCV001994846 benign Ethylmalonic encephalopathy 2021-07-27 reviewed by expert panel curation The c.505+264T>G (NM_014297.5) variant in ETHE1 is an intronic variant which is located in intron 4 (intron 4/6). The highest population minor allele frequency for the c.505+264T>G variant in gnomAD v2.1.1 is 0.077 (2,431/31,374 alleles) in the general population, which is higher than the ClinGen ETHE1 threshold >0.001 for BA1, and therefore meets this criterion (BA1). This variant has been observed in at least 169 homozygous individuals (gnomAD v2.1.1) with no features of ethylmalonic aciduria, petechiae, chronic diarrhea, acrocyanosis, nor developmental delay. In summary, this variant meets the criteria to be classified as benign, and therefore not causative of Autosomal Recessive Ethylmalonic Encephalopathy. ACMG/AMP criteria applied, as specified by the ClinGen ETHE1 VCEP (version 1.0): BA1, BS2. Approved 7/6/2021.
GeneDx RCV000830339 SCV000972074 benign not provided 2018-06-14 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.

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