Submissions for variant NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) (rs752570169)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000638860	SCV000760414	uncertain significance	Imerslund-Gräsbeck syndrome	2018-01-17	criteria provided, single submitter	clinical testing	This sequence change replaces proline with arginine at codon 1299 of the CUBN protein (p.Pro1299Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs752570169, ExAC 0.009%). 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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