ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.859del (p.Arg287fs)

gnomAD frequency: 0.00001  dbSNP: rs2064937140
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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 RCV001925554 SCV002180328 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1412812). This premature translational stop signal has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (HLH) (PMID: 32542393). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg287Glufs*41) 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).

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