ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1721C>T (p.Pro574Leu)

gnomAD frequency: 0.00002  dbSNP: rs369783460
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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 RCV001037416 SCV001200827 uncertain significance Nephronophthisis 14 2022-07-05 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 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"). ClinVar contains an entry for this variant (Variation ID: 836313). This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is present in population databases (rs369783460, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 566 of the ZNF423 protein (p.Pro566Leu).
Ambry Genetics RCV004031031 SCV003645597 uncertain significance not specified 2022-08-17 criteria provided, single submitter clinical testing The c.1697C>T (p.P566L) 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 1697, causing the proline (P) at amino acid position 566 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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