ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306300 SCV002601364 pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing Reported as 6834del5 in an individual with atopic dermatitis (Zhang et al., 2011); Frameshift variant predicted to result in protein truncation, as the last 1783 amino acids are replaced with 39 different amino acids, and other loss-of-function variants have been reported downstream in HGMD.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21039602)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796724 SCV005417339 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PS4_Supporting+PP4

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