ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.692+7C>T

gnomAD frequency: 0.00001  dbSNP: rs773842088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350910 SCV001545338 uncertain significance Familial cold autoinflammatory syndrome 3 2020-04-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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 present in population databases (rs773842088, ExAC 0.001%). This sequence change falls in intron 8 of the PLCG2 gene. It does not directly change the encoded amino acid sequence of the PLCG2 protein.
Fulgent Genetics, Fulgent Genetics RCV002476612 SCV002794158 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692616 SCV005193555 uncertain significance not provided criteria provided, single submitter not provided

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