ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)

gnomAD frequency: 0.00004  dbSNP: rs527236046
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000132568 SCV000267369 uncertain significance Alagille syndrome due to a JAG1 point mutation 2016-03-18 criteria provided, single submitter reference population
Eurofins Ntd Llc (ga) RCV000597619 SCV000707404 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138646 SCV001298713 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000132568 SCV001402561 benign Alagille syndrome due to a JAG1 point mutation 2023-05-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498649 SCV002804091 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 2021-12-21 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132568 SCV000172509 probable-pathogenic Alagille syndrome due to a JAG1 point mutation no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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