ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1946+6T>C (rs751287778)

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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 RCV000588787 SCV000694408 likely pathogenic Wilson disease 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1946+6T>C variant involves the alteration of a conserved intronic nucleotide. 3/5 splice prediction tools via Alamut suggest potential impact on a normal splicing pattern, which was confirmed by the RNA studies performed on RNA extracted from peripheral lymphoblasts and liver cells from a homozygous pt. Based on the results, c.1946+6T>C leads to an alternative transcript that is lacking exons 6,7,8 (Zappu_MCP_2012). The variant is present in the large control population dataset of ExAC at a very low frequency 0.0000084 (1/120708 chrs tested), which does not exceed the estimated maximal expected allele frequency of a pathogenic variant in ATP7B gene (0.0054). The variant of interest has been reported in affected individuals with clinically and biochemically confirmed dx of WD via published reports. Taken together, this variant is classified as Likely Pathogenic.
Counsyl RCV000588787 SCV000799146 uncertain significance Wilson disease 2018-04-05 criteria provided, single submitter clinical testing

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