ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1253G>A (p.Ser418Asn)

gnomAD frequency: 0.00006  dbSNP: rs368014239
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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 RCV001307355 SCV001496765 uncertain significance Nephronophthisis 14 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 410 of the ZNF423 protein (p.Ser410Asn). This variant is present in population databases (rs368014239, 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: 1009813). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ZNF423 protein function. 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 RCV004887674 SCV005545196 uncertain significance not specified 2024-09-03 criteria provided, single submitter clinical testing The c.1229G>A (p.S410N) 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 1229, causing the serine (S) at amino acid position 410 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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