ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)

dbSNP: rs572122562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671716 SCV000796722 uncertain significance Wilson disease 2017-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282316 SCV002572264 uncertain significance not specified 2022-08-03 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1616C>T (p.Pro539Leu) results in a non-conservative amino acid change located in the Heavy metal-associated domain (IPR006121) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249472 control chromosomes (gnomAD). c.1616C>T has been reported in three Austrian siblings with compound heterozygous genotype c.1616C>T/c.2448G>T diagnosed with Wilson Disease (example: Hofer_2012). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Baylor Genetics RCV000671716 SCV004216299 likely pathogenic Wilson disease 2023-10-10 criteria provided, single submitter clinical testing

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