ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.389del (p.Pro130fs)

dbSNP: rs1843413593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001255179 SCV001431533 likely pathogenic Aortic valve disease 1 2020-08-28 criteria provided, single submitter clinical testing Interpretation: This NOTCH1 variant is absent in a large population dataset and has not been reported in ClinVar nor the literature to our knowledge. This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. We consider c.389delC to be likely pathogenic.

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