ClinVar Miner

Submissions for variant NM_007055.3(POLR3A):c.2554A>G (rs267608671)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413750 SCV000491315 likely pathogenic not provided 2016-03-12 criteria provided, single submitter clinical testing The M852V variant in the POLR3A gene has been reported previously in several individuals with leukodystrophy, hypogonadotropic hypogonadism, and dental anomalies (Bernard et al., 2011; Terao et al., 2012; Daoud et al., 2013; Wolf et al., 2014). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The M852V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The M852V variant is a strong candidate for a pathogenic variant.
OMIM RCV000024141 SCV000045432 pathogenic Hypomyelinating leukodystrophy 7 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024141 SCV000055886 pathologic Hypomyelinating leukodystrophy 7 2012-08-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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