ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.908T>C (p.Val303Ala)

dbSNP: rs1421598228
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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 RCV003044663 SCV003347352 uncertain significance Mosaic variegated aneuploidy syndrome 2 2022-05-04 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. This variant has not been reported in the literature in individuals affected with CEP57-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 303 of the CEP57 protein (p.Val303Ala).
Ambry Genetics RCV005308904 SCV005975382 uncertain significance Inborn genetic diseases 2025-03-02 criteria provided, single submitter clinical testing The p.V303A variant (also known as c.908T>C), located in coding exon 9 of the CEP57 gene, results from a T to C substitution at nucleotide position 908. The valine at codon 303 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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