ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)

dbSNP: rs1555282751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670965 SCV000795895 uncertain significance Wilson disease 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV000670965 SCV001228810 uncertain significance Wilson disease 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1355 of the ATP7B protein (p.Gly1355Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 8938442). ClinVar contains an entry for this variant (Variation ID: 555192). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000670965 SCV002027147 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing

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