ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg)

gnomAD frequency: 0.00003  dbSNP: rs539891523
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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 RCV001863881 SCV002125919 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-12-29 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is present in population databases (rs539891523, ExAC 0.02%). This sequence change replaces serine with arginine at codon 343 of the CEP57 protein (p.Ser343Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV004039625 SCV004925575 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.1029T>A (p.S343R) alteration is located in exon 9 (coding exon 9) of the CEP57 gene. This alteration results from a T to A substitution at nucleotide position 1029, causing the serine (S) at amino acid position 343 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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