ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4587-5C>G

gnomAD frequency: 0.00003  dbSNP: rs780617240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002938542 SCV003264542 likely benign Adams-Oliver syndrome 5 2022-11-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005233036 SCV005876745 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing The NOTCH1 c.4587-5C>G variant (rs780617240), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 2056403). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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