Submissions for variant NM_002016.2(FLG):c.1714C>T (p.Arg572Ter)

dbSNP: rs200601767

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002034874	SCV002107379	pathogenic	not provided	2023-09-01	criteria provided, single submitter	clinical testing	Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 3490 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24077912, 16444271)
3billion	RCV003152774	SCV003842088	likely pathogenic	Ichthyosis vulgaris	2023-02-23	criteria provided, single submitter	clinical testing	The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.010%). This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. The variant has been reported to be associated with FLG -related disorder (ClinVar ID: VCV001345023). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab	RCV003152774	SCV004050268	likely pathogenic	Ichthyosis vulgaris	2023-04-11	criteria provided, single submitter	clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	RCV003152774	SCV005873592	likely pathogenic	Ichthyosis vulgaris	2020-12-19	criteria provided, single submitter	clinical testing