ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.477dup (p.Glu160fs)

dbSNP: rs746683647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598732 SCV000710528 pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing Reported in the published literature, as c.477-478insA due to alternate nomenclature, in trans with a second FLG variant in the proband with mild ichthyosis, but in the heterozygous state in multiple affected relatives with more marked symptoms (PMID: 22299762); Frameshift variant predicted to result in abnormal protein length as the last 3902 amino acids are replaced with 9 different amino acids, and other similar variants have been reported in HGMD; This variant is associated with the following publications: (PMID: 22299762)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796247 SCV005416501 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PP1_Moderate

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