ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs)

dbSNP: rs2133363840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388533 SCV001589536 pathogenic Adams-Oliver syndrome 5 2021-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr595Trpfs*35) in the NOTCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NOTCH1 are known to be pathogenic (PMID: 16025100, 21457232, 25132448, 25963545). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NOTCH1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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