ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)

gnomAD frequency: 0.00002  dbSNP: rs532864884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066306 SCV001231313 uncertain significance Wilson disease 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 433 of the ATP7B protein (p.Thr433Ala). This variant is present in population databases (rs532864884, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 860062). 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 not expected to disrupt ATP7B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001066306 SCV002793210 uncertain significance Wilson disease 2021-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001066306 SCV001456189 uncertain significance Wilson disease 2020-03-17 no assertion criteria provided clinical testing

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