ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His)

dbSNP: rs1555291272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673040 SCV000798206 uncertain significance Wilson disease 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000673040 SCV001563237 uncertain significance Wilson disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 715 of the ATP7B protein (p.Tyr715His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 14974157, 17272994). ClinVar contains an entry for this variant (Variation ID: 556966). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000673040 SCV002027168 uncertain significance Wilson disease 2021-09-05 criteria provided, single submitter clinical testing

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