ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.863G>A (p.Arg288Gln)

gnomAD frequency: 0.00001  dbSNP: rs766223757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877678 SCV002141495 uncertain significance not provided 2021-08-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs766223757, ExAC 0.006%). This sequence change replaces arginine with glutamine at codon 288 of the CEP152 protein (p.Arg288Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant has not been reported in the literature in individuals with CEP152-related disease. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
3billion RCV004728884 SCV005328593 likely benign Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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