Submissions for variant NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter)

gnomAD frequency: 0.00003  dbSNP: rs201356558

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255606	SCV000322416	pathogenic	not provided	2024-12-05	criteria provided, single submitter	clinical testing	Observed in a patient with atopic dermatitis in published literature (PMID: 24608987); Nonsense variant predicted to result in protein truncation, as the last 653 amino acid(s) are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 29428354, 28407221, 31365035, 32018027, 31589614, 24608987, 16444271)
Baylor Genetics	RCV001332077	SCV001524279	likely pathogenic	Ichthyosis vulgaris	2019-01-15	criteria provided, single submitter	clinical testing	This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in an African American child with atopic dermatitis [PMID 24608987]
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV003137870	SCV003806999	pathogenic	Dermatitis, atopic, 2	2022-10-12	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1 strong, PS4 strong, PM2 supporting
Genome-Nilou Lab	RCV001332077	SCV004049856	likely pathogenic	Ichthyosis vulgaris	2023-04-11	criteria provided, single submitter	clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	RCV001332077	SCV005873731	likely pathogenic	Ichthyosis vulgaris	2021-03-25	criteria provided, single submitter	clinical testing