Submissions for variant NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)

gnomAD frequency: 0.00280  dbSNP: rs148765730

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697370	SCV000717494	benign	not provided	2019-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315908	SCV000848572	benign	Inborn genetic diseases	2016-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875118	SCV001017398	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2025-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001697370	SCV005274749	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001834937	SCV002089098	benign	Menkes kinky-hair syndrome	2019-12-12	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935655	SCV004748234	benign	ATP7A-related disorder	2019-05-31	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).