ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.55G>C (p.Gly19Arg)

gnomAD frequency: 0.00075  dbSNP: rs765666942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287818 SCV001474549 uncertain significance Charcot-Marie-Tooth disease type 4B3 2020-08-30 criteria provided, single submitter clinical testing The SBF1 c.55G>C; p.Gly19Arg variant (rs765666942), to our knowledge, is not reported in the medical literature, gene specific variation databases. This variant is found in the general population with an overall allele frequency of 0.05 % (59 / 110,290 alleles) in the Genome Aggregation Database. The glycine at position 19 is moderately conserved, and computational analyses of the effects of the p.Gly19Arg variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Gly19Arg variant cannot be determined with certainty.
GeneDx RCV001587318 SCV001823236 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 9536098, 17576681)
Invitae RCV001587318 SCV002287240 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 19 of the SBF1 protein (p.Gly19Arg). This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is present in population databases (rs765666942, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with SBF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 994425). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001587318 SCV002541738 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing

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