ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.37C>T (p.His13Tyr)

gnomAD frequency: 0.00003  dbSNP: rs770949915
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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 RCV001977283 SCV002259509 uncertain significance Mosaic variegated aneuploidy syndrome 2 2021-01-16 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: "Not Available"; 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 (rs770949915, ExAC 0.01%). This sequence change replaces histidine with tyrosine at codon 13 of the CEP57 protein (p.His13Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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