ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)

gnomAD frequency: 0.00001  dbSNP: rs747169857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414378 SCV000491502 likely pathogenic not provided 2024-08-26 criteria provided, single submitter clinical testing Observed with a second UNC13D variant in a patient with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (PMID: 33658321); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33658321)
Labcorp Genetics (formerly Invitae), Labcorp RCV001861424 SCV002118545 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2021-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 372959). This variant is present in population databases (rs747169857, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Gln307*) 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).
Fulgent Genetics, Fulgent Genetics RCV001861424 SCV002802205 likely pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-04-08 criteria provided, single submitter clinical testing

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