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
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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584880 SCV000692877 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765313 SCV000896568 uncertain significance Brittle cornea syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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