ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) (rs140330283)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000330555 SCV000432905 uncertain significance Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357300 SCV000432906 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618450 SCV000736156 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000645019 SCV000766758 uncertain significance Alagille syndrome 1 2017-12-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 767 of the JAG1 protein (p.Thr767Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs140330283, ExAC 0.009%). This variant has not been reported in the literature in individuals with JAG1-related disease. ClinVar contains an entry for this variant (Variation ID: 337751). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730538 SCV000858283 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing

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