ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs)

dbSNP: rs1455334351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003847176 SCV004649821 uncertain significance Adams-Oliver syndrome 5 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2131Alafs*117) in the NOTCH1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 425 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. 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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