ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)

gnomAD frequency: 0.00009  dbSNP: rs760470297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728261 SCV000855811 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV001037675 SCV001201099 benign Alagille syndrome due to a JAG1 point mutation 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442550 SCV002732678 uncertain significance Cardiovascular phenotype 2022-09-05 criteria provided, single submitter clinical testing The p.N784D variant (also known as c.2350A>G), located in coding exon 19 of the JAG1 gene, results from an A to G substitution at nucleotide position 2350. The asparagine at codon 784 is replaced by aspartic acid, 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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