ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)

gnomAD frequency: 0.00003  dbSNP: rs757744293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812962 SCV000953292 uncertain significance Imerslund-Grasbeck syndrome 2021-06-19 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with CUBN-related disease. This variant is not present in population databases (ExAC no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV002501112 SCV002782943 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-10-20 criteria provided, single submitter clinical testing

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