ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.701T>G (p.Leu234Trp)

gnomAD frequency: 0.00003  dbSNP: rs750192070
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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 RCV000805836 SCV000945808 uncertain significance Mosaic variegated aneuploidy syndrome 2 2018-11-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP57-related disease. This variant is present in population databases (rs750192070, ExAC 0.02%). This sequence change replaces leucine with tryptophan at codon 234 of the CEP57 protein (p.Leu234Trp). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and tryptophan.

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