ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln)

dbSNP: rs781509375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138543 SCV001298604 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.
Ambry Genetics RCV002436720 SCV002748027 uncertain significance Cardiovascular phenotype 2021-11-19 criteria provided, single submitter clinical testing The p.E1003Q variant (also known as c.3007G>C), located in coding exon 24 of the JAG1 gene, results from a G to C substitution at nucleotide position 3007. The glutamic acid at codon 1003 is replaced by glutamine, 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.

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