ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.489G>A (p.Arg163=)

gnomAD frequency: 0.00001  dbSNP: rs533076307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944155 SCV001090119 likely benign Ethylmalonic encephalopathy 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000944155 SCV001295581 uncertain significance Ethylmalonic encephalopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003884817 SCV004702142 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ETHE1: BP4, BP7
Natera, Inc. RCV000944155 SCV001456210 uncertain significance Ethylmalonic encephalopathy 2020-01-24 no assertion criteria provided clinical testing

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