ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) (rs145798966)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000244316 SCV000602599 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590083 SCV000704531 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000244316 SCV000518709 likely benign not specified 2018-02-20 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 RCV000590083 SCV000694400 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.1620C>T (p.Leu540Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign 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 215/122660 control chromosomes (1 homozygote) at a frequency of 0.0017528, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). The variant was reported in affected individuals in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000526640 SCV000626831 benign Wilson disease 2017-08-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244316 SCV000301695 benign not specified criteria provided, single submitter clinical testing

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