ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.308A>T (p.Asp103Val)

gnomAD frequency: 0.00003  dbSNP: rs756747278
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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 RCV001348312 SCV001542611 uncertain significance Nephronophthisis 14 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 95 of the ZNF423 protein (p.Asp95Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs756747278, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. 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"). 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 RCV004036551 SCV003886319 uncertain significance not specified 2023-01-24 criteria provided, single submitter clinical testing The c.284A>T (p.D95V) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a A to T substitution at nucleotide position 284, causing the aspartic acid (D) at amino acid position 95 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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