ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) (rs770153492)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000501203 SCV000596929 uncertain significance not specified 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV001061176 SCV001225909 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 375 of the SBF2 protein (p.Gln375Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs770153492, ExAC 0.002%). This variant has not been reported in the literature in individuals with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 436639). 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173113 SCV001336189 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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