Submissions for variant NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)

dbSNP: rs151340633

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000012560	SCV000246739	pathogenic	Menkes kinky-hair syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725792	SCV000339441	pathogenic	not provided	2016-02-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001231166	SCV001403675	pathogenic	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2023-10-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg201*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Menkes disease (PMID: 19194885, 28451781). ClinVar contains an entry for this variant (Variation ID: 11793). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000012560	SCV000032794	pathogenic	Menkes kinky-hair syndrome	2009-01-01	no assertion criteria provided	literature only
Natera, Inc.	RCV000012560	SCV002089039	pathogenic	Menkes kinky-hair syndrome	2018-01-05	no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000012560	SCV004011887	uncertain significance	Menkes kinky-hair syndrome	2016-01-06	no assertion criteria provided	literature only