ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.444A>C (p.Glu148Asp)

gnomAD frequency: 0.00002  dbSNP: rs763144202
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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 RCV001296714 SCV001485686 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-10-14 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 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"). This variant has not been reported in the literature in individuals with CEP57-related conditions. This variant is present in population databases (rs763144202, ExAC 0.003%). This sequence change replaces glutamic acid with aspartic acid at codon 148 of the CEP57 protein (p.Glu148Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Baylor Genetics RCV001296714 SCV001524018 uncertain significance Mosaic variegated aneuploidy syndrome 2 2019-05-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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