ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1060C>T (p.Arg354Trp)

gnomAD frequency: 0.00002  dbSNP: rs200831034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069337 SCV001234499 uncertain significance Nephronophthisis 14 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 346 of the ZNF423 protein (p.Arg346Trp). This variant is present in population databases (rs200831034, gnomAD 0.02%). 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: 862588). 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 with a negative predictive value of 80%. 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 RCV004030708 SCV003735785 uncertain significance not specified 2021-06-22 criteria provided, single submitter clinical testing The c.1036C>T (p.R346W) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a C to T substitution at nucleotide position 1036, causing the arginine (R) at amino acid position 346 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693579 SCV005194368 uncertain significance not provided criteria provided, single submitter not provided

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