ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.82G>C (p.Val28Leu) (rs142855305)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731757 SCV000565080 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing The V28L variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V28L variant is observed in 16/9616 (0.17%) alleles from individuals of African American background in the ExAC dataset (Lek et al., 2016). The V28L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V28L as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731757 SCV000859607 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000731757 SCV001008658 likely benign not provided 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001425112 SCV001627726 likely benign Alagille syndrome 1 2020-06-23 criteria provided, single submitter clinical testing

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