ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2185_2186delinsAA (p.Ala729Asn)

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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 RCV005074207 SCV005697141 uncertain significance Adams-Oliver syndrome 5 2024-08-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 729 of the NOTCH1 protein (p.Ala729Asn). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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