Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001918309 | SCV002179728 | uncertain significance | Nephronophthisis 14 | 2021-02-05 | 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 (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. This variant has not been reported in the literature in individuals with ZNF423-related conditions. This variant is present in population databases (rs762299767, ExAC 0.01%). This sequence change replaces aspartic acid with asparagine at codon 609 of the ZNF423 protein (p.Asp609Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. |
Ambry Genetics | RCV004042738 | SCV003940047 | uncertain significance | not specified | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.1825G>A (p.D609N) 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 1825, causing the aspartic acid (D) at amino acid position 609 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |