ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)

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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 RCV002320433 SCV002607868 uncertain significance Inborn genetic diseases 2020-09-14 criteria provided, single submitter clinical testing The p.K1039R variant (also known as c.3116A>G), located in coding exon 15 of the ATP7A gene, results from an A to G substitution at nucleotide position 3116. The lysine at codon 1039 is replaced by arginine, an amino acid with highly similar properties. This allele was reported in one hemizygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available 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 RCV003099210 SCV003503709 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-09-28 criteria provided, single submitter clinical testing

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