ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.1895A>G (p.Gln632Arg)

gnomAD frequency: 0.00037  dbSNP: rs140953760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001974696 SCV002214124 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 1436128). This variant has not been reported in the literature in individuals affected with CENPF-related conditions. This variant is present in population databases (rs140953760, gnomAD 0.2%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 632 of the CENPF protein (p.Gln632Arg).
Ambry Genetics RCV004042945 SCV004924202 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1895A>G (p.Q632R) alteration is located in exon 12 (coding exon 11) of the CENPF gene. This alteration results from a A to G substitution at nucleotide position 1895, causing the glutamine (Q) at amino acid position 632 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001974696 SCV005419606 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004731206 SCV005340293 likely benign CENPF-related disorder 2024-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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