ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.928C>T (p.Arg310Cys)

gnomAD frequency: 0.00002  dbSNP: rs763335050
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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 RCV002264536 SCV002543069 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047426 SCV004958828 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.928C>T (p.R310C) alteration is located in exon 7 (coding exon 5) of the TMEM173 gene. This alteration results from a C to T substitution at nucleotide position 928, causing the arginine (R) at amino acid position 310 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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