ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) (rs587778559)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557976 SCV000659395 uncertain significance Adams-Oliver syndrome 5 2017-09-14 criteria provided, single submitter clinical testing This variant, c.2263_2265delAAT, results in the deletion of 1 amino acid(s) of the NOTCH1 protein (p.Asn755del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587778559, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with a NOTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 134914). In summary, this variant has uncertain impact on NOTCH1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000620336 SCV000739355 uncertain significance Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
ITMI RCV000121664 SCV000085862 not provided not specified 2013-09-19 no assertion provided reference population

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