ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)

gnomAD frequency: 0.00001  dbSNP: rs782664232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803726 SCV000943609 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345800 SCV002621420 uncertain significance Inborn genetic diseases 2020-01-22 criteria provided, single submitter clinical testing The p.R123K variant (also known as c.368G>A), located in coding exon 2 of the ATP7A gene, results from a G to A substitution at nucleotide position 368. The arginine at codon 123 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV000803726 SCV002777120 uncertain significance Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-10-21 criteria provided, single submitter clinical testing

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