ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) (rs775055397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169109 SCV000220309 likely pathogenic Wilson disease 2014-05-14 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169109 SCV001361702 pathogenic Wilson disease 2019-12-09 criteria provided, single submitter clinical testing Variant summary: ATP7B c.3008C>T (p.Ala1003Val) results in a non-conservative amino acid change in 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 3.3e-05 in 240390 control chromosomes (gnomAD). c.3008C>T has been reported in the literature in multiple individuals affected with Wilson Disease (e.g. Loudianos_1999, Coffey_2013, Guggilla_2015). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted 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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