ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)

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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 RCV003529389 SCV004343379 uncertain significance Mosaic variegated aneuploidy syndrome 2 2023-02-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 7 of the CEP57 protein (p.Ser7Phe). This variant is present in population databases (rs762244415, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CEP57-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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