ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter)

gnomAD frequency: 0.00002  dbSNP: rs754292065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210685 SCV001382183 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp184*) 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 (rs754292065, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 21755595, 24470399, 25573973). ClinVar contains an entry for this variant (Variation ID: 940988). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002275318 SCV002563437 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing UNC13D: PVS1, PM2, PM3
DASA RCV001210685 SCV002588774 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-11-03 criteria provided, single submitter clinical testing The c.551G>A;p.Trp184* variant creates a premature translational stop signal in the UNC13D gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (Clinvar ID: 40988) - PS4_supporting. The variant is present at low allele frequencies population databases (rs754292065 – gnomAD 0.0001068%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.

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