ClinVar Miner

Submissions for variant NM_000053.3(ATP7B):c.1708-5T>G (rs770829226)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000589652 SCV000790754 pathogenic Wilson disease 2017-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000589652 SCV000894017 likely pathogenic Wilson disease 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589652 SCV000694403 pathogenic Wilson disease 2016-12-30 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1708-5T>G variant involves the alteration of a conserved intronic nucleotide, which 4/5 splice prediction tools predict an affect on splicing. A functional study, Shimizu_1995 supports these predictions with the observation of the variant causing exon 5 skipping. The variant of interest was observed in controls with an allele frequency of 1/120756, which does not exceed the estimated maximal expected allele frequency for a pathogenic ATP7B variant of 1/185. Multiple publications report the variant in Wilson Disease patients as homozygotes and compound heterozygotes, predominantly in Japanese individuals. Multiple databases have cited the variant as "pathogenic." Therefore, the variant of interest has been classified as "Pathogenic."

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