ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3658A>G (p.Thr1220Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039838 SCV001203387 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1220 of the SBF2 protein (p.Thr1220Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs753811515, ExAC 0.001%). This variant has not been reported in the literature in individuals with SBF2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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