ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)

gnomAD frequency: 0.00003  dbSNP: rs763016003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705932 SCV000834954 uncertain significance Adams-Oliver syndrome 5 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro2514Argfs*4) in the NOTCH1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the NOTCH1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 581973). 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.
Blueprint Genetics RCV000788171 SCV000927200 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000705932 SCV002555191 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270983 SCV002555192 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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