ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del)

dbSNP: rs587778561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514647 SCV003260221 uncertain significance Adams-Oliver syndrome 5 2023-12-28 criteria provided, single submitter clinical testing This variant, c.2377_2379del, results in the deletion of 1 amino acid(s) of the NOTCH1 protein (p.Asn793del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587778561, gnomAD 0.007%). 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: 134916). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
ITMI RCV000121666 SCV000085864 not provided not specified 2013-09-19 no assertion provided reference population

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