ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)

gnomAD frequency: 0.00001  dbSNP: rs779494870
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824312 SCV000965205 pathogenic Wilson disease 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1341 of the ATP7B protein (p.Gly1341Asp). This variant is present in population databases (rs779494870, gnomAD 0.003%). This missense change has been observed in individuals with Wilson disease (PMID: 16283883, 21610751, 21682854, 22484412). ClinVar contains an entry for this variant (Variation ID: 665925). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Gly1341 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been observed in individuals with ATP7B-related conditions (PMID: 14639035, 16088907, 17264425, 19937698, 21682854), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000824312 SCV001977216 likely pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000824312 SCV002800457 likely pathogenic Wilson disease 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000824312 SCV004216345 pathogenic Wilson disease 2024-03-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480876 SCV004226640 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3_strong, PM5, PS4_moderate
Natera, Inc. RCV000824312 SCV001455574 pathogenic Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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