ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser)

gnomAD frequency: 0.00001  dbSNP: rs758025995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196134 SCV001366638 uncertain significance Neonatal pseudo-hydrocephalic progeroid syndrome 2019-04-25 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2.
Invitae RCV001863101 SCV002162500 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 661 of the POLR3A protein (p.Asn661Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 930459). 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. 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.

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