ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.769A>G (p.Ile257Val) (rs756866661)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654053 SCV000775943 uncertain significance Charcot-Marie-Tooth disease type 4 2017-12-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 257 of the SBF2 protein (p.Ile257Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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