ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)

gnomAD frequency: 0.00002  dbSNP: rs782428979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002134070 SCV002458094 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363673 SCV002625993 uncertain significance Inborn genetic diseases 2018-04-18 criteria provided, single submitter clinical testing The p.K1259E variant (also known as c.3775A>G), located in coding exon 18 of the ATP7A gene, results from an A to G substitution at nucleotide position 3775. The lysine at codon 1259 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well 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.

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