ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.73G>A (p.Ala25Thr)

gnomAD frequency: 0.00001  dbSNP: rs777866403
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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 RCV000818329 SCV000958933 uncertain significance Nephronophthisis 14 2018-08-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ZNF423-related disease. This variant is present in population databases (rs777866403, ExAC 0.003%). This sequence change replaces alanine with threonine at codon 17 of the ZNF423 protein (p.Ala17Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV004028954 SCV003625589 uncertain significance not specified 2022-05-11 criteria provided, single submitter clinical testing The c.49G>A (p.A17T) alteration is located in exon 3 (coding exon 2) of the ZNF423 gene. This alteration results from a G to A substitution at nucleotide position 49, causing the alanine (A) at amino acid position 17 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693376 SCV005194370 uncertain significance not provided criteria provided, single submitter not provided

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