ClinVar Miner

Submissions for variant NM_018451.5(CPAP):c.3080A>G (p.Gln1027Arg)

gnomAD frequency: 0.00023  dbSNP: rs141237492
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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 RCV001884977 SCV002160409 uncertain significance not provided 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1027 of the CENPJ protein (p.Gln1027Arg). This variant is present in population databases (rs141237492, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with CENPJ-related conditions. ClinVar contains an entry for this variant (Variation ID: 1395151). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CENPJ protein function with a positive predictive value of 80%. 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.
New York Genome Center RCV002266053 SCV002548568 uncertain significance Microcephaly 6, primary, autosomal recessive 2021-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482744 SCV002776361 uncertain significance Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 2022-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554215 SCV003530082 uncertain significance Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing The c.3080A>G (p.Q1027R) alteration is located in exon 10 (coding exon 9) of the CENPJ gene. This alteration results from a A to G substitution at nucleotide position 3080, causing the glutamine (Q) at amino acid position 1027 to be replaced by an arginine (R). The p.Q1027R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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