ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.1511G>A (p.Arg504His)

gnomAD frequency: 0.00229  dbSNP: rs142266408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954076 SCV001100684 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262944 SCV001441002 uncertain significance Acrofacial dysostosis Cincinnati type 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547246 SCV003745195 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1511G>A (p.R504H) alteration is located in exon 12 (coding exon 12) of the POLR1A gene. This alteration results from a G to A substitution at nucleotide position 1511, causing the arginine (R) at amino acid position 504 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000954076 SCV004155140 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing POLR1A: BP4, BS2

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