ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) (rs1286080173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586978 SCV000694441 pathogenic Wilson disease 2016-11-21 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3247C>T (p.Leu1083Phe) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 120420 control chromosomes but was reported at high frequency in Korean WD patients, and also in Japanese WD patients. Functionally, the variant was shown to lead to significant abnormalities subcellular localization and protein level. Taken together, this variant is classified as pathogenic.
Counsyl RCV000586978 SCV001132129 likely pathogenic Wilson disease 2019-06-27 no assertion criteria provided clinical testing

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