ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup)

dbSNP: rs762336270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660179 SCV000782173 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861714 SCV002279636 uncertain significance Adams-Oliver syndrome 5 2024-10-15 criteria provided, single submitter clinical testing This variant, c.7244_7246dup, results in the insertion of 1 amino acid(s) of the NOTCH1 protein (p.Pro2415dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs762336270, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. 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.

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