Submissions for variant NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002443551	SCV002736479	uncertain significance	Inborn genetic diseases	2020-02-26	criteria provided, single submitter	clinical testing	The p.V751M variant (also known as c.2251G>A), located in coding exon 9 of the ATP7A gene, results from a G to A substitution at nucleotide position 2251. The valine at codon 751 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV003101168	SCV003449932	likely benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2023-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV003318724	SCV004022818	uncertain significance	not provided	2023-01-25	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function