ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2807G>C (p.Ser936Thr)

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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 RCV002970986 SCV003281296 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 936 of the POLR3A protein (p.Ser936Thr). This variant is present in population databases (rs139271396, gnomAD 0.1%). 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: 2068211). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt POLR3A protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003170725 SCV003867913 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.2807G>C (p.S936T) alteration is located in exon 21 (coding exon 21) of the POLR3A gene. This alteration results from a G to C substitution at nucleotide position 2807, causing the serine (S) at amino acid position 936 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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