ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)

gnomAD frequency: 0.00007  dbSNP: rs896312288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707723 SCV000620818 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing Has not been reported in peer-reviewed literature to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, Liu2015[meetingabstract])
Fulgent Genetics, Fulgent Genetics RCV002490919 SCV002778309 uncertain significance Brittle cornea syndrome 1 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403240 SCV004105409 uncertain significance ZNF469-related disorder 2023-09-08 criteria provided, single submitter clinical testing The ZNF469 c.585C>G variant is predicted to result in the amino acid substitution p.Asn195Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0071% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88494463-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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