ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala)

gnomAD frequency: 0.00013  dbSNP: rs144335923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002633369 SCV003516179 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2196053). 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 WHSC1 protein function. This variant has not been reported in the literature in individuals affected with WHSC1-related conditions. This variant is present in population databases (rs144335923, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 805 of the WHSC1 protein (p.Val805Ala).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002633369 SCV004025982 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing PP3, PP2

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