ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.532del (p.Gln178fs)

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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 RCV003497346 SCV004297565 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln178Argfs*71) 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 (rs746341454, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 16825436). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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