ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)

gnomAD frequency: 0.00044  dbSNP: rs202063628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726296 SCV000343498 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369805 SCV000432903 benign Isolated Nonsyndromic Congenital Heart Disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000366468 SCV000726344 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083154 SCV001001564 benign Alagille syndrome due to a JAG1 point mutation 2024-01-16 criteria provided, single submitter clinical testing

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