ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)

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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 RCV002297900 SCV002591928 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 105 of the NOTCH3 protein (p.Ser105Pro). This variant has not been reported in the literature in individuals affected with NOTCH3-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NOTCH3 protein function. 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.
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital RCV002297900 SCV005328469 uncertain significance not provided 2024-08-05 criteria provided, single submitter clinical testing

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