ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) (rs779323689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169455 SCV000220876 likely pathogenic Wilson disease 2014-11-13 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169455 SCV000694433 pathogenic Wilson disease 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.2828G>A (p.Gly943Asp) variant located in the P-type ATPase, A domain (via InterPro) involves the alteration of a conserved nucleotide, which 5/5 in silico tools predict a damaging outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120380 (1/60190), which does not exceed the estimated maximal expected allele frequency for a pathogenic ATP7B variant of 1/185. Multiple publications have cited the variant in affected individuals, along with multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic.

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