ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)

dbSNP: rs1649084282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001310089 SCV001482304 pathogenic Alagille syndrome due to a NOTCH2 point mutation 2019-07-26 criteria provided, single submitter clinical testing First, the NOTCH2 variant p.(Met2042Thr) is a de novo variant in the patient with Alagille syndrome and no family history. Second, the variant is located in the ANK domain which was a mutational hot spot without benign variants. Third, this variant was absent from large population studies. Four, multiple lines of computational evidence support a deleterious effect on the gene NOTCH2. Five, this is a missense variant and NOTCH2 has a low rate of benign missense variation and where missense variants are a common mechanism of disease.

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