Submissions for variant NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)

gnomAD frequency: 0.00014  dbSNP: rs143966918

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000730936	SCV000574117	uncertain significance	not provided	2017-04-03	criteria provided, single submitter	clinical testing	The V1156A variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1156A variant is observed in 1/6614 (0.015%) alleles from individuals of Finnish background in the ExAC dataset (Lek et al., 2016). The V1156A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated 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 V1156A as a variant of uncertain significance.
Invitae	RCV000687251	SCV000814808	likely benign	Alagille syndrome due to a JAG1 point mutation	2023-12-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730936	SCV000858703	uncertain significance	not provided	2017-12-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765484	SCV000896779	uncertain significance	Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000730936	SCV001962378	uncertain significance	not provided	2021-09-01	criteria provided, single submitter	clinical testing