ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.551G>A (p.Arg184His)

dbSNP: rs121918351
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725979 SCV000340966 pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000008059 SCV000829372 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg184 amino acid residue in JAG1. Other variant(s) that disrupt this residue have been observed in individuals with JAG1-related conditions (PMID: 10220506, 10533065), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects JAG1 function (PMID: 11058898, 22487239). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JAG1 protein function. ClinVar contains an entry for this variant (Variation ID: 7620). This missense change has been observed in individuals with Alagille syndrome (PMID: 9585603, 10220506, 12442286, 24748328, 25676721). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 184 of the JAG1 protein (p.Arg184His).
Fulgent Genetics, Fulgent Genetics RCV002476943 SCV000894216 pathogenic 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 2021-07-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000008059 SCV002102428 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-02-04 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS3, PM5_STR, PS4_MOD, PM2_SUP, PP2, PP3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000008059 SCV004807839 pathogenic Alagille syndrome due to a JAG1 point mutation 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000008059 SCV000028264 pathogenic Alagille syndrome due to a JAG1 point mutation 2001-02-15 no assertion criteria provided literature only
GeneReviews RCV000008059 SCV001167335 not provided Alagille syndrome due to a JAG1 point mutation no assertion provided literature only

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