ClinVar Miner

Submissions for variant NM_018089.3(ANKZF1):c.1763T>C (p.Met588Thr)

gnomAD frequency: 0.00064  dbSNP: rs200339260
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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 RCV001316589 SCV001507219 uncertain significance not provided 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 588 of the ANKZF1 protein (p.Met588Thr). This variant is present in population databases (rs200339260, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ANKZF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017437). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001316589 SCV005188299 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003963211 SCV004776942 likely benign ANKZF1-related disorder 2022-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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