ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.245G>A (p.Arg82His)

gnomAD frequency: 0.00002  dbSNP: rs140149031
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218977 SCV001390890 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-02-21 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEP57 protein function. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 82 of the CEP57 protein (p.Arg82His). This variant is present in population databases (rs140149031, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. ClinVar contains an entry for this variant (Variation ID: 947834). 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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