ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)

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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 RCV002975346 SCV003284412 uncertain significance Mosaic variegated aneuploidy syndrome 2 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 99 of the CEP57 protein (p.Arg99Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004973785 SCV005561087 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The p.R99S variant (also known as c.297A>T), located in coding exon 3 of the CEP57 gene, results from an A to T substitution at nucleotide position 297. The arginine at codon 99 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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