ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.836_838del (p.Gln279del)

dbSNP: rs1379170788
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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 RCV000703728 SCV000832642 uncertain significance Mosaic variegated aneuploidy syndrome 2 2018-04-18 criteria provided, single submitter clinical testing This variant, c.836_838delAAC, results in the deletion of 1 amino acid of the CEP57 protein (p.Gln279del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEP57-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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.
GeneDx RCV003227838 SCV003924426 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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