ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1278C>T (p.Val426=) (rs143556945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000306439 SCV000733363 likely benign Wilson disease no assertion criteria provided clinical testing
GeneDx RCV000610248 SCV000721248 likely benign not specified 2018-03-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000306439 SCV000384677 uncertain significance Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588346 SCV000694396 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1278C>T (p.Val426Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 143/122762 control chromosomes at a frequency of 0.0011649, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). One clinical diagnostic laboratory has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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