ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)

gnomAD frequency: 0.00001  dbSNP: rs751316870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002259529 SCV002538894 pathogenic not provided 2022-06-20 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002502069 SCV002811006 likely pathogenic Combined oxidative phosphorylation deficiency 44 2022-04-16 criteria provided, single submitter clinical testing

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