ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) (rs367838230)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620726 SCV000739401 likely benign Cardiovascular phenotype 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000441252 SCV000534138 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000231030 SCV000290280 uncertain significance Adams-Oliver syndrome 5 2016-03-08 criteria provided, single submitter clinical testing This sequence change affects codon 1657 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 not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NOTCH1-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. Algorithms developed to predict the effect of sequence 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 variant is a novel silent change with uncertain impact on mRNA splicing. It has been classified as a Variant of Uncertain Significance.

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