ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3905G>T (p.Gly1302Val)

gnomAD frequency: 0.00001  dbSNP: rs1196891209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249722 SCV001423748 likely pathogenic POLR3A-related neurological disorders 2020-03-02 criteria provided, single submitter clinical testing The POLR3A c.3905G>T (p.Gly1302Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on application of ACMG criteria including the finding of this variant in trans with a pathogenic variant and its absence from population frequency databases, the p.Gly1302Val variant is classified as likely pathogenic for POLR3A-related neurological disorders.

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