Submissions for variant NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)

gnomAD frequency: 0.00003  dbSNP: rs773917820

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000401312	SCV000334648	uncertain significance	not provided	2015-08-28	criteria provided, single submitter	clinical testing
Counsyl	RCV000671603	SCV000796591	uncertain significance	Wilson disease	2017-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV000671603	SCV000955941	uncertain significance	Wilson disease	2022-04-10	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1156 of the ATP7B protein (p.Arg1156His). This variant is present in population databases (rs773917820, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of Wilson disease (PMID: 18034201). ClinVar contains an entry for this variant (Variation ID: 282908). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP7B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV000671603	SCV002027155	uncertain significance	Wilson disease	2021-09-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000671603	SCV002787185	uncertain significance	Wilson disease	2022-05-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000671603	SCV002086809	uncertain significance	Wilson disease	2020-02-04	no assertion criteria provided	clinical testing