ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) (rs199581222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350255 SCV001544643 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1130 of the POLR3A protein (p.Val1130Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs199581222, ExAC 0.09%). This variant has not been reported in the literature in individuals with POLR3A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007775 SCV001167459 uncertain significance Hypomyelinating leukodystrophy 7 no assertion criteria provided research

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