ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly)

dbSNP: rs748485985
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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 RCV001958382 SCV002225302 uncertain significance Mosaic variegated aneuploidy syndrome 2 2021-11-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is present in population databases (rs748485985, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 445 of the CEP57 protein (p.Asp445Gly). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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