ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) (rs775606471)

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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 RCV000495869 SCV000579500 likely pathogenic Glutaric aciduria, type 1 2017-06-07 no assertion criteria provided clinical testing The observed variant is not reported in 1000 Genomes, ExAC and dbSNP databases but found to be pathogenic by in silico analysis using Mutation Taster, Polyphen2 and SIFT software.

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