ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.315C>A (p.Asp105Glu)

gnomAD frequency: 0.00004  dbSNP: rs201546282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217106 SCV001388936 uncertain significance Nephronophthisis 14 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 97 of the ZNF423 protein (p.Asp97Glu). This variant is present in population databases (rs201546282, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. ClinVar contains an entry for this variant (Variation ID: 946275). 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: "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.
Ambry Genetics RCV004887668 SCV005545200 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing The c.291C>A (p.D97E) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a C to A substitution at nucleotide position 291, causing the aspartic acid (D) at amino acid position 97 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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