ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) (rs766573319)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654134 SCV000776024 uncertain significance Charcot-Marie-Tooth disease type 4 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1206 of the SBF2 protein (p.Val1206Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs766573319, ExAC 0.04%). 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: "Benign"; 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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