ClinVar Miner

Submissions for variant NM_014797.3(ZBTB24):c.1085A>G (p.Lys362Arg)

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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 RCV003076640 SCV003449890 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 362 of the ZBTB24 protein (p.Lys362Arg). This variant is present in population databases (rs768038018, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. 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: "Probably Damaging"; Align-GVGD: "Not Available"). 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.

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