ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met)

gnomAD frequency: 0.00002  dbSNP: rs750330670
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696741 SCV000825318 uncertain significance Adams-Oliver syndrome 5 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 565 of the NOTCH1 protein (p.Val565Met). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NOTCH1 protein function. ClinVar contains an entry for this variant (Variation ID: 574727). This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions.

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