ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup)

dbSNP: rs772459675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811649 SCV000951925 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-09-26 criteria provided, single submitter clinical testing This variant, c.283_285dup, results in the insertion of 1 amino acid(s) of the UNC13D protein (p.Glu95dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772459675, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. 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: 655464). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002264004 SCV002543173 uncertain significance Autoinflammatory syndrome 2017-11-01 criteria provided, single submitter clinical testing

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