ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)

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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 RCV002975727 SCV003282800 benign Adams-Oliver syndrome 5 2023-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736233 SCV005364266 uncertain significance NOTCH1-related disorder 2024-06-21 no assertion criteria provided clinical testing The NOTCH1 c.4881C>T is a noncoding alteration. This variant is predicted to alter splicing based on available splicing prediction programs (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0042% of alleles in individuals of South Asian descent in gnomAD. 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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