ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.898A>G (p.Ile300Val) (rs141669540)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200317 SCV000255138 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 300 of the SBF2 protein (p.Ile300Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs141669540, ExAC 0.005%). This variant has not been reported in the literature in individuals with SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 216778). 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: "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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