ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)

dbSNP: rs755348845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001920466 SCV002182947 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu603*) in the UNC13D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC13D are known to be pathogenic (PMID: 14622600). This variant is present in population databases (rs755348845, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 21248318). ClinVar contains an entry for this variant (Variation ID: 1411105). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264425 SCV002543141 likely pathogenic Autoinflammatory syndrome 2019-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001920466 SCV002800799 likely pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-04-14 criteria provided, single submitter clinical testing

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