Submissions for variant NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)

gnomAD frequency: 0.00001  dbSNP: rs766370717

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001347805	SCV001542083	likely benign	Alagille syndrome due to a JAG1 point mutation	2023-04-18	criteria provided, single submitter	clinical testing
GeneDx	RCV002469378	SCV002765401	uncertain significance	not provided	2022-06-14	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003294367	SCV004005031	uncertain significance	Cardiovascular phenotype	2023-03-24	criteria provided, single submitter	clinical testing	The p.D482N variant (also known as c.1444G>A), located in coding exon 12 of the JAG1 gene, results from a G to A substitution at nucleotide position 1444. The aspartic acid at codon 482 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.