ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys)

gnomAD frequency: 0.00003  dbSNP: rs548986682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454164 SCV000538007 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001232846 SCV001405418 uncertain significance Nephronophthisis 14 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1124 of the ZNF423 protein (p.Glu1124Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs548986682, ExAC 0.02%). This variant has been observed in individual(s) with neurologic disease (PMID: 26539891). ClinVar contains an entry for this variant (Variation ID: 402221). 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. 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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