ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter)

gnomAD frequency: 0.00010  dbSNP: rs200360684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760537 SCV000890428 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing Identified in two Finnish individuals with atopic dermatitis in published literature (PMID: 27840886); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 3042 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 31589614, 32325630, 27840886)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000760537 SCV004026065 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing

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