ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)

gnomAD frequency: 0.00001  dbSNP: rs267608673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000034140 SCV001138098 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001852691 SCV002285768 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 372 of the POLR3A protein (p.Asp372Asn). This variant is present in population databases (rs267608673, gnomAD 0.003%). This missense change has been observed in individual(s) with POLR3A-related conditions (PMID: 21855841, 28459997). ClinVar contains an entry for this variant (Variation ID: 41240). 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.
GeneReviews RCV000034140 SCV000058075 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2017-05-11 no assertion criteria provided literature only

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