ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)

gnomAD frequency: 0.00045  dbSNP: rs146466242
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490507 SCV000267320 uncertain significance Ichthyosis vulgaris 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000114742 SCV000491243 pathogenic not provided 2022-05-12 criteria provided, single submitter clinical testing Immunohistochemical staining for filaggrin in the epidermis of patients with atopic eczema harboring this variant revealed residual, but markedly reduced, filaggrin expression compared to controls (Nemoto-Hasebe et al., 2009); Nonsense variant, located in the C-terminal incomplete filaggrin repeat, predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 27339295, 27519469, 22407025, 29380403, 30810250, 30530433, 19663875, 28143684, 28842327, 25997159, 29122406, 27366014, 28120571, 34426522, 33047146)
Mendelics RCV000490507 SCV002516373 pathogenic Ichthyosis vulgaris 2022-05-04 criteria provided, single submitter clinical testing
Institute of Immunology and Genetics Kaiserslautern RCV004771462 SCV005382218 pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris 2022-07-15 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PS3, PP5; Variant was found in heterozygous state.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004771462 SCV005415813 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris criteria provided, single submitter clinical testing PVS1_Moderate+PS4+PP4
OMIM RCV000114742 SCV000148625 uncertain significance not provided 2012-07-01 no assertion criteria provided literature only

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