ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.400G>A (p.Gly134Ser)

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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 RCV003648753 SCV004510320 uncertain significance Nephronophthisis 14 2022-12-30 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 126 of the ZNF423 protein (p.Gly126Ser).
Ambry Genetics RCV004686794 SCV005182327 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.376G>A (p.G126S) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a G to A substitution at nucleotide position 376, causing the glycine (G) at amino acid position 126 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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