ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286022 SCV001472540 likely pathogenic none provided 2019-12-10 criteria provided, single submitter clinical testing The ATP7A c.2406G>C; p.Lys802Asn variant is reported in the literature in at least one individual affected with Menkes disease (Skjorringe 2012, Skjorringe 2017). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant occurs in the last nucleotide of exon 10, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. Consistent with these predictions, analysis of patient mRNA shows skipping of exon 10 in nearly all transcripts, which correlates with the loss of protein expression in patient fibroblasts (Skjorringe 2017). Based on available information, this variant is considered to be likely pathogenic. References: Skjorringe T et al. Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. Sci Rep. 2017 Apr 7;7(1):757. Skjorringe T et al. Splice site mutations in the ATP7A gene. PLoS One. 2011 Apr 11;6(4):e18599.

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