ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.631G>T (p.Ala211Ser) (rs112973322)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654146 SCV000776036 uncertain significance Charcot-Marie-Tooth disease type 4 2017-09-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 211 of the PRX protein (p.Ala211Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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.

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