ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.767C>T (p.Ala256Val)

dbSNP: rs2135352101
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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 RCV001930740 SCV002190606 uncertain significance Mosaic variegated aneuploidy syndrome 2 2021-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This sequence change replaces alanine with valine at codon 256 of the CEP57 protein (p.Ala256Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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