ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)

gnomAD frequency: 0.00001  dbSNP: rs199632531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195564 SCV000252250 pathogenic not provided 2016-05-03 criteria provided, single submitter clinical testing The Q376X nonsense variant in the SERAC1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, Q376X is consistent with a disease-causing variant.
Elsea Laboratory, Baylor College of Medicine RCV001250054 SCV001424206 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2020-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250054 SCV002554781 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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