ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)

gnomAD frequency: 0.00007  dbSNP: rs763164530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234479 SCV001407129 likely benign Alagille syndrome due to a JAG1 point mutation 2022-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322124 SCV002611136 uncertain significance Cardiovascular phenotype 2024-05-19 criteria provided, single submitter clinical testing The p.T1087M variant (also known as c.3260C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3260. The threonine at codon 1087 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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