ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) (rs751202110)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001455 SCV001079183 likely benign Wilson disease 2020-08-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001455 SCV001158703 likely benign Wilson disease 2018-08-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172064 SCV001334999 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001001455 SCV001571482 uncertain significance Wilson disease 2021-01-07 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 8 of the ATP7B gene that results in the amino acid substitution of Cysteine for Arginine at codon 715 was detected. The c. 2145C>T (p.Tyr715(=)) variant has not been reported in the 1000 genomes database and has a minor allele frequency of 0.01% in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2. The variant is found in trans of a known pathogenic variant c.3182G>A. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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