ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1403+1G>C (rs1131690799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000494708 SCV000579476 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2017-01-31 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genomes and ExAC databases and is likely to be pathogenic by online software like Mutation taster. A child born to consangeneous parents, normal up to one month, developed jaundice thereafter suspected with metabolic liver disease and died at 2 yrs of age. Parents were found to be heterozygous for mutation c.1403+1G>C in intron 13 of SERAC1 gene
OMIM RCV000494708 SCV000051865 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2006-05-01 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000494708 SCV000987044 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2014-07-10 no assertion criteria provided literature only

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