ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2709+2T>A

dbSNP: rs2143865621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046853 SCV002117028 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2022-10-28 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1349251). Disruption of this splice site has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 26684649, 28353193, 29783935). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 28 of the UNC13D gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in UNC13D are known to be pathogenic (PMID: 14622600).
Palindrome, Gene Kavoshgaran Aria RCV002046853 SCV005382619 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2024-07-12 criteria provided, single submitter clinical testing

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