ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003320436 SCV004024535 uncertain significance Wilson disease 2023-05-19 criteria provided, single submitter clinical testing This ATP7B missense variant (rs895442917) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 3/249580 total alleles; 0.001%; no homozygotes). It has not been reported in ClinVar, nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be tolerated. The asparagine residue at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of c.3323A>C;p.Asn1108Thr in ATP7B to be uncertain at this time.

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