ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.376A>G (p.Met126Val)

dbSNP: rs150427822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039859 SCV001203408 uncertain significance Nephronophthisis 14 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 118 of the ZNF423 protein (p.Met118Val). This variant is present in population databases (rs150427822, gnomAD 0.01%). 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: 838330). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV001039859 SCV003821836 uncertain significance Nephronophthisis 14 2022-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031121 SCV003862850 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.352A>G (p.M118V) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a A to G substitution at nucleotide position 352, causing the methionine (M) at amino acid position 118 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697029 SCV005199027 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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