ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1246_1258dup (p.Ser420fs)

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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 RCV003604067 SCV004402589 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser420Cysfs*45) 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. For these reasons, this variant has been classified as Pathogenic.

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