ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)

gnomAD frequency: 0.00003  dbSNP: rs121909626
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000017716 SCV002516379 pathogenic Ichthyosis vulgaris 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490380 SCV002796978 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris 2022-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000017716 SCV004049877 likely pathogenic Ichthyosis vulgaris 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV004719654 SCV005325772 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 1508 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: 18521703, 17291859, 20159264, 28143684, 21173567, 18200065)
OMIM RCV000017716 SCV000037993 pathogenic Ichthyosis vulgaris 2007-02-01 no assertion criteria provided literature only
OMIM RCV000017717 SCV000037994 risk factor Dermatitis, atopic, 2, susceptibility to 2007-02-01 no assertion criteria provided literature only

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