ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp)

dbSNP: rs757718124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888343 SCV002143005 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1377122). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. This variant is present in population databases (rs757718124, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 621 of the POLR3A protein (p.Gly621Asp).
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV003388058 SCV003920808 likely pathogenic POLR3A-related disorder 2023-04-27 criteria provided, single submitter research

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