ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.226C>G (p.Leu76Val)

gnomAD frequency: 0.00002  dbSNP: rs368273217
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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 RCV001068875 SCV001234008 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-09-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 862197). 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 expected to disrupt CEP57 protein function. 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. This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is present in population databases (rs368273217, gnomAD 0.006%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 76 of the CEP57 protein (p.Leu76Val).

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