ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004726690 SCV005338966 likely pathogenic JAG1-related disorder 2024-05-06 no assertion criteria provided clinical testing The JAG1 c.2T>C variant is predicted to disrupt the translation initiation site (Start Loss). This variant disrupts the translation initiation codon (Met1). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. An alternative variant predicted to result in start loss, described as c.3_4delGCinsTT, has been reported to occur de novo in a patient with Alagille syndrome (Colliton et al. 2001. PubMed ID: 11180599). Additionally, missense and truncating variants within exon 1, as well as deletions of exon 1, have been reported as pathogenic in patients with JAG1-related disease (Gilbert. 2019. PubMed ID: 31343788; Crosnier. 1999. PubMed ID: 10220506; Guegan. 2012. PubMed ID: 21752016). We classify this variant as likely pathogenic.

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