ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys)

dbSNP: rs1555827480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520609 SCV000621020 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing The Q1173K variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q1173K variant is not observed in large population cohorts (Lek et al., 2016). The Q1173K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q1173K as a variant of uncertain significance

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