ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)

dbSNP: rs368589213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666811 SCV000791167 uncertain significance Wilson disease 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666811 SCV000894840 uncertain significance Wilson disease 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000666811 SCV002027166 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987656 SCV004804498 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: ATP7B c.2480G>T (p.Arg827Leu) 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 4e-06 in 249562 control chromosomes. c.2480G>T has been reported in the literature in at least two individuals affected with Wilson Disease in the compond heterozygous state (Ferenci_2014, Ferenci_2019). 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. ClinVar contains an entry for this variant (Variation ID: 551685). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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