ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)

gnomAD frequency: 0.00016  dbSNP: rs377714939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907741 SCV001052466 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416121 SCV002718817 uncertain significance Inborn genetic diseases 2020-08-06 criteria provided, single submitter clinical testing The p.R652W variant (also known as c.1954C>T), located in coding exon 8 of the ATP7A gene, results from a C to T substitution at nucleotide position 1954. The arginine at codon 652 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from gnomAD, the c.1954C>T variant has an overall frequency of 0.004% (9/204,698) of total alleles studied. The highest observed frequency was 0.02% (4/18,955) in the African sub-population, with no hemizygotes observed. This amino acid position is not 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.

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