ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)

gnomAD frequency: 0.00001  dbSNP: rs375017114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200413 SCV000250461 uncertain significance not provided 2018-10-25 criteria provided, single submitter clinical testing The R543C variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R543C variant was not observed at a significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position within the EGF-like 9 domain that is conserved across mammalian species. The R543C variant is a non-conservative amino acid substitution, as an arginine is replaced with a cysteine residue, possibly affecting disulfide bonds and impacting protein structure. In silico analyses predict this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported. This variant was found in JAG1
Labcorp Genetics (formerly Invitae), Labcorp RCV001054389 SCV001218701 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000200413 SCV003813879 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing

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