ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001193692 SCV001362721 pathogenic Wilson disease 2019-08-23 criteria provided, single submitter clinical testing Variant summary: ATP7B c.4112T>C (p.Leu1371Pro) results in a non-conservative amino acid change located in the TM8 (Transmembrane 8) domain (Chang_2017) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248110 control chromosomes (gnomAD and publications). c.4112T>C has been reported in the literature in multiple individuals (compound heterozygous and heterozygous) affected with Wilson Disease (e.g. Cheng _2017, Li_2019, Panichareon_2011), particularly of Asian origin. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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