ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu)

gnomAD frequency: 0.00001  dbSNP: rs771263341
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228747 SCV001401163 uncertain significance Adams-Oliver syndrome 5 2019-11-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs771263341, ExAC 0.01%). This sequence change replaces proline with leucine at codon 574 of the NOTCH1 protein (p.Pro574Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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