ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.8705C>T (p.Thr2902Met) (rs536725615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584880 SCV000692877 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765313 SCV000896568 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000584880 SCV000582285 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The T2874M is observed at an allelefrequency of 0.2% in European (non-Finnish) and European Finnish populations (Lek et al., 2016). In-silico analyses,including protein predictors and evolutionary conservation, support that this variant does not alter proteinstructure/function. Furthermore, no missense variants in nearby residues have been reported in the Human GeneMutation Database in association with BCS (Stenson et al., 2014). Nevertheless, the T2874M variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differin polarity, charge, size and/or other properties. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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