ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)

dbSNP: rs746259131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002395082 SCV002703265 pathogenic Cardiovascular phenotype 2021-02-25 criteria provided, single submitter clinical testing The p.C55* pathogenic mutation (also known as c.165C>A), located in coding exon 2 of the JAG1 gene, results from a C to A substitution at nucleotide position 165. This changes the amino acid from a cysteine to a stop codon within coding exon 2. This mutation was identified in an individual with a clinical diagnosis of Alagille syndrome (Warthen DM et al. Hum. Mutat., 2006 May;27:436-43). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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