ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) (rs773981674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470830 SCV000548939 uncertain significance Adams-Oliver syndrome 5 2018-04-18 criteria provided, single submitter clinical testing This sequence change affects codon 1731 of the NOTCH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NOTCH1 protein. This variant is present in population databases (rs773981674, ExAC 0.1%). This variant has been reported in an individual affected with hypoplastic left heart syndrome (PMID: 21457232). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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