ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) (rs369417066)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507880 SCV000604029 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000766905 SCV000619116 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the INF2 gene. The P959S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P959S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P959S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001233859 SCV001406473 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-07-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 959 of the INF2 protein (p.Pro959Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439828). 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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