ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2876A>T (p.Lys959Met)

gnomAD frequency: 0.00001  dbSNP: rs1957667608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437724 SCV002745943 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The p.K959M variant (also known as c.2876A>T), located in coding exon 13 of the ATP7B gene, results from an A to T substitution at nucleotide position 2876. The lysine at codon 959 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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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