ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)

gnomAD frequency: 0.00002  dbSNP: rs781952393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318870 SCV000851852 uncertain significance Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing The p.M5I variant (also known as c.15G>A), located in coding exon 1 of the ATP7A gene, results from a G to A substitution at nucleotide position 15. The methionine at codon 5 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000821440 SCV000962195 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-09-10 criteria provided, single submitter clinical testing

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