ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)

gnomAD frequency: 0.00001  dbSNP: rs780664696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV001089492 SCV001244736 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome criteria provided, single submitter research
GeneDx RCV001664677 SCV001872890 pathogenic not provided 2021-07-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 29205472, 32313153)
Genome-Nilou Lab RCV001089492 SCV002554836 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing

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