ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3556+1G>T (rs184388696)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587514 SCV000694450 likely pathogenic Wilson disease 2017-05-25 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3556+1G>T variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was identified in 3 Wilson disease patients of Turkish descent (Karunas_Genetika_2000; Karunas_Russian J of Med Genet_2009; Khidiyatova_Conf paper). This variant is absent from the large control database ExAC (0/120768 control chromosomes). In addition, the variant has been reported by the University of Alberta Wilson Disease database and is classified as pathogenic. Variant involves the same neucleotide c.3556+1G>A has been classififed as likely pathgoenic by our lab. Taken together, this variant is classified as likely pathogenic until more evidence becomes available.
Counsyl RCV000587514 SCV000791699 likely pathogenic Wilson disease 2017-05-26 criteria provided, single submitter clinical testing

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