ClinVar Miner

Submissions for variant NM_019014.6(POLR1B):c.3398A>G (p.Asp1133Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004181379 SCV003676450 uncertain significance not specified 2022-10-12 criteria provided, single submitter clinical testing The c.3398A>G (p.D1133G) alteration is located in exon 15 (coding exon 15) of the POLR1B gene. This alteration results from a A to G substitution at nucleotide position 3398, causing the aspartic acid (D) at amino acid position 1133 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003954007 SCV004772012 likely benign POLR1B-related disorder 2024-04-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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