ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2851C>T (p.Gln951Ter)

gnomAD frequency: 0.00001  dbSNP: rs2064860460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001914052 SCV002190324 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln951*) 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 not present in population databases (gnomAD no frequency). 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: 1420143). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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