ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.866G>A (p.Gly289Glu) (rs148541545)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202858 SCV000257915 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000766850 SCV000618753 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing The G289E variant in the LBR gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G289E variant is observed in 51/7076 (0.72%) alleles from individuals of African background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G289E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G289E as a variant of uncertain significance.
Invitae RCV000766850 SCV001066756 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098727 SCV001255113 likely benign Greenberg dysplasia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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