Submissions for variant NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)

gnomAD frequency: 0.00009  dbSNP: rs201999500

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000640895	SCV000762499	likely benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2023-12-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001508046	SCV001713947	uncertain significance	not provided	2020-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001508046	SCV002496245	uncertain significance	not provided	2022-03-15	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 533673; ClinVar); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002388073	SCV002699029	uncertain significance	Inborn genetic diseases	2022-01-13	criteria provided, single submitter	clinical testing	The p.P462L variant (also known as c.1385C>T), located in coding exon 4 of the ATP7A gene, results from a C to T substitution at nucleotide position 1385. The proline at codon 462 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV001508046	SCV004811669	uncertain significance	not provided	2024-03-01	criteria provided, single submitter	clinical testing