ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.725_726delinsTT (p.Ser242Ile) (rs886043704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657158 SCV000341580 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000657158 SCV000619510 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The c.725_726delGCinsTT variant has not been published as pathogenic or been reported as benign to our knowledge. However, the c.725_726delGCinsTT variant is classified in ClinVar by another clinical laboratory as a variant of uncertain significance (SCV000341580.2; Landrum et al., 2016). The c.725_726delGCinsTT variant is observed in 0.25% (58/22820) of alleles from individuals of South Asian ancestry in large population cohorts (Lek et al., 2016). Nevertheless, the c.725_726delGCinsTT variant results in a non-conservative amino acid substitution of a Serine residue with an Isoleucine residue (S242I), which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, in silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.

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