ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)

gnomAD frequency: 0.00003  dbSNP: rs542799026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657650 SCV000779397 pathogenic not provided 2025-02-21 criteria provided, single submitter clinical testing Identified in individuals with either ichthyosis vulgaris or atopic dermatitis (PMID: 21039602, 21428977, 23290076); Nonsense variant predicted to result in protein truncation, as the last 1356 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 23744309, 23290076, 21428977, 21326297, 36735214, 16444271, 21039602)
Mendelics RCV002248852 SCV002516377 pathogenic Ichthyosis vulgaris 2022-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002248852 SCV004049874 pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796265 SCV005418696 pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4+PP4

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