ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.11290_11291delGGinsT (p.Gly3764Cysfs) (rs1555520574)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657544 SCV000779280 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The c.11290_11291delGGinsT variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed in large population cohorts (Lek et al., 2016). The c.11290_11291delGGinsT variant causes a shift in reading frame starting at codon glycine 3764, changing it to a cysteine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Gly3764CysfsX14. This variant is expected to result in an abnormal, truncated protein product due to the loss of the last 162 amino acids which are replaced with 13 incorrect amino acids. However, no downstream truncating variants in the ZNF469 gene have been reported in the Human Gene Mutation Database in association with BCS (Stenson et al., 2014), and in the absence of functional expression studies, the physiological consequence of this variant cannot be precisely determined.

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