Submissions for variant NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)

dbSNP: rs797045332

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194736	SCV000246647	pathogenic	Menkes kinky-hair syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000807620	SCV000947683	pathogenic	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2022-09-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 210395). This premature translational stop signal has been observed in individual(s) with Menkes disease (PMID: 32293788). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg547*) in the ATP7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413).
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	RCV000194736	SCV001571370	pathogenic	Menkes kinky-hair syndrome	2021-04-13	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000807620	SCV001452637	pathogenic	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2020-09-16	no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000194736	SCV004011757	uncertain significance	Menkes kinky-hair syndrome	2016-01-06	no assertion criteria provided	literature only