ClinVar Miner

Submissions for variant NM_018451.5(CPAP):c.3803G>A (p.Gly1268Asp)

gnomAD frequency: 0.00011  dbSNP: rs151090294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991841 SCV001143634 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000991841 SCV002050624 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000991841 SCV003282579 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1268 of the CENPJ protein (p.Gly1268Asp). This variant is present in population databases (rs151090294, gnomAD 0.2%). 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: 804717). 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: "Probably 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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