ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) (rs145199888)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000547373 SCV000375067 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547373 SCV000657943 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 733 of the SBF2 protein (p.Gln733Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs145199888, ExAC 0.02%) but has not been reported in the literature in individuals with an SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 306600). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658587 SCV000780364 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000658587 SCV000969697 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002506 SCV001160463 uncertain significance Charcot-Marie-Tooth disease, type 4B2 2019-04-26 criteria provided, single submitter clinical testing The SBF2 c.2197C>G; p.Gln733Glu variant (rs145199888), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 306600). This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.03 percent in the European Non-Finnish (identified on 45 out of 129,148 chromosomes). The glutamine at codon 733 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Gln733Glu variant is uncertain at this time.

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