ClinVar Miner

Submissions for variant NC_000019.9:g.(44015719_44030352)_(44031354_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004703069 SCV005202781 pathogenic Ethylmalonic encephalopathy 2024-07-31 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 1-3, which includes the initiator codon in the ETHE1 gene. The exact breakpoint at the 5' end of this variant is unknown, therefore this deletion may extend upstream of the annotated region of this gene. Although the exact breakpoints of this deletion are not known, it is predicted to remove the initiation codon and result in an absence of protein or a truncation of the encoded protein due to translation initiation at a downstream site. A presumed nomenclature of c.(?_-25)_(375+1_376-1)del has been designated for the purposes of this classification. The variant was absent in 19668 control chromosomes. To our knowledge, no occurrence of c.(?_-25)_(375+1_376-1)del in individuals affected with Ethylmalonic Encephalopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3248452). Based on the evidence outlined above, the variant was classified as pathogenic.

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