ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1177C>T (p.Pro393Ser)

dbSNP: rs939567399
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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 RCV001343406 SCV001537384 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 393 of the POLR3A protein (p.Pro393Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1039852). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003169647 SCV003875353 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.1177C>T (p.P393S) alteration is located in exon 8 (coding exon 8) of the POLR3A gene. This alteration results from a C to T substitution at nucleotide position 1177, causing the proline (P) at amino acid position 393 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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