ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.4448_4450delTGC (p.Leu1483del) (rs555544144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520841 SCV000619380 uncertain significance not specified 2017-07-24 criteria provided, single submitter clinical testing The c.4448_4450delTGC variant in the ZNF469 gene has not been reported to our knowledge. In addition, this variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.4448_4450delTGC variant is predicted to result in the deletion of one leucine amino acid at position 1483, denoted p.Leu1483del. This in-frame deletion is not expected to result in protein truncation or loss of protein from this allele through nonsense-mediated mRNA decay. No other in-frame deletions in the ZNF469 gene have been reported in the Human Gene Mutation Database definitively in association with disease (Stenson et al., 2014). Furthermore, no missense variants in nearby residues have been reported in HGMD in association with the disease (Stenson et al., 2009), indicating this region of the protein is not known to harbor disease-associated variation.
Illumina Clinical Services Laboratory,Illumina RCV000281960 SCV000399348 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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