ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)

gnomAD frequency: 0.00006  dbSNP: rs376092818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734693 SCV000862854 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424747 SCV002742825 uncertain significance Cardiovascular phenotype 2021-09-26 criteria provided, single submitter clinical testing The p.Q83R variant (also known as c.248A>G), located in coding exon 2 of the JAG1 gene, results from an A to G substitution at nucleotide position 248. The glutamine at codon 83 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485942 SCV002779204 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 2022-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768246 SCV004686259 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-13 criteria provided, single submitter clinical testing

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