ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.411+4T>C

gnomAD frequency: 0.00001  dbSNP: rs375733291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264527 SCV002543048 uncertain significance Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV003586321 SCV004316260 uncertain significance STING-associated vasculopathy with onset in infancy 2023-10-19 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the TMEM173 gene. It does not directly change the encoded amino acid sequence of the TMEM173 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs375733291, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694181). 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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