ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4022-19C>T (rs369736734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606511 SCV000726858 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587905 SCV000694459 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.4022-19C>T variant involves the alteration of a non-conserved intronic nucleotide. 4/5 splice prediction tools via Alamut suggest a gain of a cryptic splicing donor site and ESEfinder predicts change of binding motif for splicing enhancer SRp40, however, RNA studies confirming these predictions are yet to be conducted. The variant is present in the large control population dataset of ExAC at a frequency 0.00028 (20/71752 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 not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as VUS.

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