ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)

dbSNP: rs1555291836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589255 SCV000694394 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing Variant Summary: The c.2044A>G variant involves the alteration of a conserved nucleotide and 2/4 in silico tools predict a neutral outcome. The variant is absent from the large, broad ExAC control population. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Fulgent Genetics, Fulgent Genetics RCV002491160 SCV002796349 uncertain significance Wilson disease 2022-01-11 criteria provided, single submitter clinical testing

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