ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)

gnomAD frequency: 0.00004  dbSNP: rs535739714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197571 SCV001368350 uncertain significance Stromme syndrome 2019-04-24 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: PM2,BP1.
Fulgent Genetics, Fulgent Genetics RCV001197571 SCV002783917 uncertain significance Stromme syndrome 2021-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559260 SCV003288184 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 2940 of the CENPF protein (p.Glu2940Gln). This variant is present in population databases (rs535739714, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CENPF-related conditions. ClinVar contains an entry for this variant (Variation ID: 931208). 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: "Deleterious"; 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.

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