ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2330G>A (p.Cys777Tyr)

dbSNP: rs2540452830
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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 RCV004527969 SCV004103809 uncertain significance NOTCH1-related disorder 2024-02-21 no assertion criteria provided clinical testing The NOTCH1 c.2330G>A variant is predicted to result in the amino acid substitution p.Cys777Tyr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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