ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002325866 SCV002606349 uncertain significance Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.D1033N variant (also known as c.3097G>A), located in coding exon 25 of the JAG1 gene, results from a G to A substitution at nucleotide position 3097. The aspartic acid at codon 1033 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099191 SCV003493766 likely benign Alagille syndrome due to a JAG1 point mutation 2023-03-27 criteria provided, single submitter clinical testing

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