ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp)

dbSNP: rs1472850646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735823 SCV000863538 uncertain significance Ethylmalonic encephalopathy 2018-03-15 no assertion criteria provided clinical testing The observed variant NM_014297.5: c.417T>G(p.Cys139Trp) in exon-4 of ETHE1 gene has not been reported in the 1000 Genomes and ExAC databases. The in-silico prediction of variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2.

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