ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)

gnomAD frequency: 0.00001  dbSNP: rs2234936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240815 SCV001413790 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418825 SCV002724600 uncertain significance Inborn genetic diseases 2021-06-16 criteria provided, single submitter clinical testing The p.R703H variant (also known as c.2108G>A), located in coding exon 8 of the ATP7A gene, results from a G to A substitution at nucleotide position 2108. The arginine at codon 703 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.0005454% (1/183358) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.001222% (1/81829) of European (non-Finnish) alleles. This amino acid position is not well conserved in available vertebrate species, and histidine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793339 SCV005411455 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing BP4, PM2
Natera, Inc. RCV001834131 SCV002089071 uncertain significance Menkes kinky-hair syndrome 2020-01-29 no assertion criteria provided clinical testing

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