ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys) (rs757744293)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812962 SCV000953292 uncertain significance Megaloblastic anemia due to inborn errors of metabolism 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2468 of the CUBN protein (p.Tyr2468Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CUBN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not available"; Align-GVGD: "Class C65"). 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.

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