ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) (rs537292240)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000509401 SCV001420896 uncertain significance Imerslund-Gräsbeck syndrome 2019-04-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 2549 of the CUBN protein (p.Thr2549Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs537292240, ExAC 0.02%). This variant has not been reported in the literature in individuals with CUBN-related disease. ClinVar contains an entry for this variant (Variation ID: 441098). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
GenomeConnect, ClinGen RCV000509401 SCV000607200 not provided Imerslund-Gräsbeck syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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