ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.889A>G (p.Lys297Glu)

dbSNP: rs2115366344
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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 RCV001961400 SCV002254776 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-11-08 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. ClinVar contains an entry for this variant (Variation ID: 1469093). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This sequence change replaces lysine with glutamic acid at codon 297 of the ZBTB24 protein (p.Lys297Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions.

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