ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.88C>T (p.Arg30Trp)

dbSNP: rs749693319
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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 RCV000691915 SCV000819714 uncertain significance Mosaic variegated aneuploidy syndrome 2 2018-02-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 30 of the CEP57 protein (p.Arg30Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs749693319, ExAC 0.02%). This variant has not been reported in the literature in individuals with CEP57-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000691915 SCV000894684 uncertain significance Mosaic variegated aneuploidy syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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