ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)

gnomAD frequency: 0.00004  dbSNP: rs764089304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734571 SCV000862723 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV001417396 SCV001619596 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406672 SCV002723384 uncertain significance Cardiovascular phenotype 2021-07-18 criteria provided, single submitter clinical testing The p.T622M variant (also known as c.1865C>T), located in coding exon 14 of the JAG1 gene, results from a C to T substitution at nucleotide position 1865. The threonine at codon 622 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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.

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