ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys)

gnomAD frequency: 0.00001  dbSNP: rs549768303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535251 SCV000638946 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 570 of the UNC13D protein (p.Arg570Cys). This variant is present in population databases (rs549768303, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 464453). 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 UNC13D 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263767 SCV002543135 uncertain significance Autoinflammatory syndrome 2020-07-01 criteria provided, single submitter clinical testing

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