Submissions for variant NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)

dbSNP: rs886041336

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000329088	SCV000329793	pathogenic	not provided	2016-08-01	criteria provided, single submitter	clinical testing	The c.4195delC variant in the ATP7B gene has been reported previously in association with Wilson disease and is a common pathogenic variant in the Saudi population (Majumdar et al. 2000; Al Jumah et al. 2004). The deletion causes a frameshift starting with codon Glutamine 1399, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Gln1399ArgfsX6. Functional analysis of c.4195delC found that this variant results in mislocalization of the ATP7B protein (Hsi et al., 2004; Cater et al., 2006). Therefore, we interpret c.4195delC to be a pathogenic variant.
Genome-Nilou Lab	RCV001729501	SCV001977206	pathogenic	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001729501	SCV002024422	likely pathogenic	Wilson disease	2023-09-14	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001729501	SCV003924274	pathogenic	Wilson disease	2023-05-08	criteria provided, single submitter	research