ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.766A>T (p.Thr256Ser)

gnomAD frequency: 0.00038  dbSNP: rs773415324
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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 RCV002264534 SCV002543063 uncertain significance Autoinflammatory syndrome 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164377 SCV003878474 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.766A>T (p.T256S) alteration is located in exon 7 (coding exon 5) of the TMEM173 gene. This alteration results from a A to T substitution at nucleotide position 766, causing the threonine (T) at amino acid position 256 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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