ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn)

gnomAD frequency: 0.00001  dbSNP: rs775240101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066148 SCV001231148 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160544 SCV003893208 uncertain significance Cardiovascular phenotype 2023-02-03 criteria provided, single submitter clinical testing The p.D923N variant (also known as c.2767G>A), located in coding exon 23 of the JAG1 gene, results from a G to A substitution at nucleotide position 2767. The aspartic acid at codon 923 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.

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