ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) (rs202235419)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233763 SCV000290238 uncertain significance Adams-Oliver syndrome 5 2015-11-19 criteria provided, single submitter clinical testing This sequence change affects codon 359 of the NOTCH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NOTCH1 gene product. This variant is present in population databases (rs202235419, ExAC 0.04%) but has not been reported in the literature. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this silent variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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