ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.445G>A (p.Ala149Thr) (rs142436391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439721 SCV000527792 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PRX gene. The A149T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A149T variant is observed in 64/7,182 (0.9%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A149T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000654241 SCV000776131 likely benign Charcot-Marie-Tooth disease type 4 2017-10-23 criteria provided, single submitter clinical testing

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