Submissions for variant NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)

dbSNP: rs34588967

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000889344	SCV001033021	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108263	SCV001265483	benign	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000889344	SCV001848459	benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000889344	SCV002497052	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	POLR3A: PM5, BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002498524	SCV002807783	likely benign	Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	2021-12-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118024	SCV000152342	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.