ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn)

dbSNP: rs1178459436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621939 SCV000736235 uncertain significance Cardiovascular phenotype 2019-04-25 criteria provided, single submitter clinical testing The p.I451N variant (also known as c.1352T>A), located in coding exon 11 of the JAG1 gene, results from a T to A substitution at nucleotide position 1352. The isoleucine at codon 451 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002274070 SCV002559444 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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