ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.5576_5577delCCinsAG (p.Thr1859Lys) (rs1555519640)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599178 SCV000710426 uncertain significance not specified 2018-01-18 criteria provided, single submitter clinical testing The c.5576_5577delCCinsAG variant of uncertain significance in the ZNF469 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.5576_5577delCCinsAG variant results in an in-frame deletion of a threonine residue and insertion of a lysine residue at position 1859 of the ZNF469 gene, denoted p.Thr1859Lys (T1859K). The T1859K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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