ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)

gnomAD frequency: 0.00002  dbSNP: rs141292792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522322 SCV000621794 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing The A833V variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 5/111,656 (0.0045%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The A833V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A833V as a variant of uncertain significance.
Ambry Genetics RCV002431493 SCV002741863 uncertain significance Cardiovascular phenotype 2022-07-19 criteria provided, single submitter clinical testing The p.A833V variant (also known as c.2498C>T), located in coding exon 21 of the JAG1 gene, results from a C to T substitution at nucleotide position 2498. The alanine at codon 833 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528288 SCV003484610 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-13 criteria provided, single submitter clinical testing

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