ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2132C>T (p.Ser711Leu)

gnomAD frequency: 0.00005  dbSNP: rs144284315
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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 RCV001060771 SCV001225482 uncertain significance Nephronophthisis 14 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 703 of the ZNF423 protein (p.Ser703Leu). This variant is present in population databases (rs144284315, gnomAD 0.01%). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 30868567). ClinVar contains an entry for this variant (Variation ID: 855491). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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