ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.224T>C (p.Phe75Ser)

dbSNP: rs2122644646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052042 SCV002318441 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-03-22 criteria provided, single submitter clinical testing Different pathogenic/likely pathogenic amino acid change has been reported with supporting evidence at the same codon (PMID:28695677,21752016). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.914>=0.6). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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