ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.487G>T (p.Gly163Ter)

dbSNP: rs1214424848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627348 SCV000748340 pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 3899 amino acid(s) are lost, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Fulgent Genetics, Fulgent Genetics RCV000763247 SCV000893884 pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338695 SCV004050275 pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing

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