ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.295C>G (p.Pro99Ala)

gnomAD frequency: 0.00001  dbSNP: rs1290786208
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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 RCV001312500 SCV001502956 uncertain significance Nephronophthisis 14 2022-07-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 91 of the ZNF423 protein (p.Pro91Ala). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1013846). 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. 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 RCV004034259 SCV003535129 uncertain significance not specified 2021-07-13 criteria provided, single submitter clinical testing The c.271C>G (p.P91A) alteration is located in exon 4 (coding exon 3) of the ZNF423 gene. This alteration results from a C to G substitution at nucleotide position 271, causing the proline (P) at amino acid position 91 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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