ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)

gnomAD frequency: 0.00001  dbSNP: rs751798708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673490 SCV000798698 likely pathogenic Wilson disease 2018-03-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091640 SCV001247800 likely pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV000673490 SCV002236292 pathogenic Wilson disease 2023-01-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP7B protein function. ClinVar contains an entry for this variant (Variation ID: 557358). This missense change has been observed in individual(s) with Wilson disease (PMID: 22763723, 23159873, 24794161). This variant is present in population databases (rs751798708, gnomAD 0.0009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 779 of the ATP7B protein (p.Trp779Gly).

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