Submissions for variant NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)

gnomAD frequency: 0.00012  dbSNP: rs374162669

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705231	SCV000278828	likely benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants; This variant is associated with the following publications: (PMID: 33151932)
Invitae	RCV000876286	SCV001018843	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429079	SCV002742408	likely benign	Inborn genetic diseases	2017-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV000876286	SCV002795916	likely benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2021-10-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705231	SCV004698762	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ATP7A: PM5, PP3, BS2
PreventionGenetics, part of Exact Sciences	RCV003937864	SCV004757269	likely benign	ATP7A-related condition	2021-12-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).