ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) (rs1394999756)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586389 SCV000694415 pathogenic Wilson disease 2017-08-23 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.2131G>A (p.Gly711Arg) variant involves the alteration of a conserved nucleotide, resulting in a missense change that lies within the TM2 domain. 5/5 in silico tools predict damaging outcome for this variant. This variant is absent in 120460 control chromosomes tested in ExAC and control cohorts reported in the literature. The variant has been identified in several patients in the literature, including as a patient who carried this variant in homozygous state. Computational structure modeling predicts that the variant disrupts the protein structure, and an overlapping variant (G711D) causes copper accumulation in the liver as well as a slight increase of copper in the brain from a mouse model study. Additionally, the codon may be a mutational hotspot since G711E and G711W, in addition to the variant of interest, are among the disease variants listed in HGMD. Taken together, this variant is classified as pathogenic.

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