Submissions for variant NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)

gnomAD frequency: 0.02148  dbSNP: rs3212989

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224631	SCV001119339	benign	not provided	2017-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000224631	SCV001912322	benign	not provided	2019-06-15	criteria provided, single submitter	clinical testing
H3Africa Consortium	RCV001777159	SCV002014629	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.082, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224631	SCV000281089	pathogenic	not provided	2015-10-28	flagged submission	clinical testing
Reproductive Health Research and Development, BGI Genomics	RCV000991189	SCV001142493	benign	Cerebrooculofacioskeletal syndrome 4	2020-01-06	no assertion criteria provided	curation	NM_001297590.1:c.850A>G in ghe gene CD3EAP has an allele frequency of 0.067 in African subpopulation in the gnomAD database. A total of 52 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.
PreventionGenetics, part of Exact Sciences	RCV003929929	SCV004738998	benign	ERCC1-related disorder	2024-01-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).