ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) (rs139851890)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169288 SCV000220604 likely pathogenic Glutaric aciduria, type 1 2014-08-20 criteria provided, single submitter literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000169288 SCV000891511 uncertain significance Glutaric aciduria, type 1 2017-12-30 criteria provided, single submitter curation
Fulgent Genetics,Fulgent Genetics RCV000169288 SCV000894185 pathogenic Glutaric aciduria, type 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000254928 SCV000321705 pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing The S139L missense variant has been reported previously in association with glutaric aciduria type I (GA1) (Goodman et al., 1998). This variant is associated with 0.2% of normal glutaryl-CoA dehydrogenase activity when expressed in E. coli (Goodman et al., 1998).

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