ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.581A>G (p.Gln194Arg)

gnomAD frequency: 0.00002  dbSNP: rs1467274670
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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 RCV001204759 SCV001375980 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 194 of the CEP57 protein (p.Gln194Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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.

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