ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)

gnomAD frequency: 0.00005  dbSNP: rs751809412
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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) RCV000591569 SCV000707124 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV001482684 SCV001687058 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438541 SCV002746045 uncertain significance Cardiovascular phenotype 2022-04-21 criteria provided, single submitter clinical testing The p.T976M variant (also known as c.2927C>T), located in coding exon 24 of the JAG1 gene, results from a C to T substitution at nucleotide position 2927. The threonine at codon 976 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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