Submissions for variant NM_198282.4(STING1):c.61G>A (p.Ala21Thr)

gnomAD frequency: 0.00017  dbSNP: rs140011636

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080030	SCV000774214	likely benign	STING-associated vasculopathy with onset in infancy	2024-01-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000762166	SCV000892431	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	STING1: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263913	SCV002543053	benign	Autoinflammatory syndrome	2021-03-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905771	SCV004723276	likely benign	STING1-related disorder	2024-02-20	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).
Ambry Genetics	RCV004025853	SCV004958823	uncertain significance	Inborn genetic diseases	2023-10-14	criteria provided, single submitter	clinical testing	The c.61G>A (p.A21T) alteration is located in exon 3 (coding exon 1) of the TMEM173 gene. This alteration results from a G to A substitution at nucleotide position 61, causing the alanine (A) at amino acid position 21 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000762166	SCV001932962	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000762166	SCV001966278	likely benign	not provided		no assertion criteria provided	clinical testing