ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)

gnomAD frequency: 0.00010  dbSNP: rs772669312
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053508 SCV001217774 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436610 SCV002748046 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.S372F variant (also known as c.1115C>T), located in coding exon 8 of the JAG1 gene, results from a C to T substitution at nucleotide position 1115. The serine at codon 372 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
PreventionGenetics, part of Exact Sciences RCV004553593 SCV004115646 uncertain significance JAG1-related disorder 2023-06-12 criteria provided, single submitter clinical testing The JAG1 c.1115C>T variant is predicted to result in the amino acid substitution p.Ser372Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10632234-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.