ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)

gnomAD frequency: 0.00001  dbSNP: rs769243366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001942001 SCV002235059 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454697). This premature translational stop signal has been observed in individual(s) with familial haemophagocytic lymphohistiocytosis (PMID: 15466010, 17993578, 29357941). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769243366, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg214*) 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).
Mendelics RCV001942001 SCV002519940 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264436 SCV002543191 pathogenic Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing

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