ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1847del (p.Gly616fs)

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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 RCV005140049 SCV005759904 pathogenic Adams-Oliver syndrome 5 2024-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly616Alafs*15) 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, 32720365, 33630301). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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