ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.762G>A (p.Ala254=)

gnomAD frequency: 0.00153  dbSNP: rs11554777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895212 SCV001039241 benign STING-associated vasculopathy with onset in infancy 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264065 SCV002543062 likely benign Autoinflammatory syndrome 2020-07-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438565 SCV004164240 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing STING1: BS2
PreventionGenetics, part of Exact Sciences RCV003910660 SCV004719955 likely benign STING1-related disorder 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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