ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter)

gnomAD frequency: 0.00006  dbSNP: rs564628353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008674 SCV001168453 pathogenic not provided 2024-10-21 criteria provided, single submitter clinical testing Observed with a second pathogenic FLG variant in multiple individuals with FLG-related ichthyosis vulgaris-atopy spectrum disorder tested at GeneDx and reported in the published literature (PMID: 32018027); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1,033 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: 36308042, 16444271, 32018027)
Mendelics RCV002249627 SCV002516376 pathogenic Ichthyosis vulgaris 2022-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002249627 SCV004049868 pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001008674 SCV004124735 likely pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing FLG: PVS1

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