ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1174-3C>G

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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 RCV003061630 SCV003461792 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-06-19 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the UNC13D gene. It does not directly change the encoded amino acid sequence of the UNC13D protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766217093, gnomAD 0.05%). This variant has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 29665027). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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