ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) (rs150811951)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726021 SCV000341283 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276199 SCV000432887 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330811 SCV000432888 uncertain significance Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000726021 SCV000581745 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing The N1110T variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N1110T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret N1110T as a variant of uncertain significance.

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