ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln)

gnomAD frequency: 0.00001  dbSNP: rs759502435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264558 SCV002543169 uncertain significance Autoinflammatory syndrome 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV003095923 SCV003023144 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 893 of the UNC13D protein (p.Arg893Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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