Submissions for variant NM_000052.7(ATP7A):c.1329del (p.Leu444fs)

dbSNP: rs2149083474

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002238610	SCV002511684	likely pathogenic	Menkes kinky-hair syndrome	2022-04-07	criteria provided, single submitter	clinical testing	Variant summary: ATP7A c.1329delC (p.Leu444CysfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in HGMD in association with Menkes syndrome. The variant was absent in 182133 control chromosomes. c.1329delC has been reported in the literature in an individual affected with Menkes Syndrome (Gu_2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Inherited Neuropathy Consortium Ii, University Of Miami	RCV002238610	SCV004012037	uncertain significance	Menkes kinky-hair syndrome	2016-01-06	no assertion criteria provided	literature only