ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.572T>A (p.Leu191His)

gnomAD frequency: 0.00048  dbSNP: rs150399616
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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 RCV000461384 SCV000548122 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 191 of the CEP57 protein (p.Leu191His). This variant is present in population databases (rs150399616, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 408446). 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 with a negative 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.
Fulgent Genetics, Fulgent Genetics RCV000461384 SCV000894686 uncertain significance Mosaic variegated aneuploidy syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237867 SCV002010619 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000461384 SCV002580142 uncertain significance Mosaic variegated aneuploidy syndrome 2 2022-05-24 criteria provided, single submitter clinical testing

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