ClinVar Miner

Submissions for variant NM_004493.2(HSD17B10):c.218C>G (p.Thr73Arg) (rs794729644)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185552 SCV000238435 uncertain significance 2-methyl-3-hydroxybutyric aciduria 2015-05-07 no assertion criteria provided research The heterozygous variant in in the HSD17B10 gene (c.218C>G; p.Thr73Arg) is considered a variant of uncertain significance. This variant has not been previously published. The variant is absent at this time from the ExAC database and represents a non-conservative amino acid change in a region of low conservation which is part of a conserved domain (Short chain dehydrogenase/reductase SDR - Alamut only).

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