ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.2457T>G (p.Ile819Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702480 SCV000831336 uncertain significance Charcot-Marie-Tooth disease type 4 2018-02-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 819 of the SBF2 protein (p.Ile819Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs746363004, ExAC 0.003%). This variant has not been reported in the literature in individuals with SBF2-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: "Deleterious"; PolyPhen-2: "Probably 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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