ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)

gnomAD frequency: 0.00073  dbSNP: rs41274600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000185529 SCV000365212 uncertain significance Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000969901 SCV001117447 likely benign not provided 2021-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969901 SCV001247294 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185529 SCV000238402 uncertain significance Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2014-12-12 no assertion criteria provided research The POLR3A variant (c.416G>A; p.Arg139His) observed in this patient is a novel change occurring at very low frequencies in control population (0.07% in ExAC) in a highly conserved amino acid position. The clinical significance of this variant is unknown.

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