ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1934+1G>A

dbSNP: rs2143658084
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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 RCV002018743 SCV002266671 uncertain significance Familial cold autoinflammatory syndrome 3 2021-06-25 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PLCG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 18 of the PLCG2 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), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PLCG2 cause disease. 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.
Revvity Omics, Revvity RCV003490985 SCV004236110 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing

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