ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)

dbSNP: rs150811951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351919 SCV001546433 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322306 SCV002611262 uncertain significance Cardiovascular phenotype 2022-03-04 criteria provided, single submitter clinical testing The p.N1110S variant (also known as c.3329A>G), located in coding exon 26 of the JAG1 gene, results from an A to G substitution at nucleotide position 3329. The asparagine at codon 1110 is replaced by serine, 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.
Fulgent Genetics, Fulgent Genetics RCV002486458 SCV002793973 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2022-05-20 criteria provided, single submitter clinical testing

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