ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)

gnomAD frequency: 0.00011  dbSNP: rs563232654
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592427 SCV000703338 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV001039478 SCV001203010 benign Alagille syndrome due to a JAG1 point mutation 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000592427 SCV002007592 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476291 SCV002781843 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 2021-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160015 SCV003855099 uncertain significance Cardiovascular phenotype 2023-01-14 criteria provided, single submitter clinical testing The p.R7C variant (also known as c.19C>T), located in coding exon 1 of the JAG1 gene, results from a C to T substitution at nucleotide position 19. The arginine at codon 7 is replaced by cysteine, an amino acid with highly dissimilar 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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