ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.631G>A (p.Ala211Thr)

dbSNP: rs112973322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992717 SCV001145218 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing
Invitae RCV001044679 SCV001208486 uncertain significance Charcot-Marie-Tooth disease type 4 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 211 of the PRX protein (p.Ala211Thr). This variant is present in population databases (rs112973322, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 805249). 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: "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.
GeneDx RCV000992717 SCV001989290 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV003346244 SCV004059914 uncertain significance Inborn genetic diseases 2023-07-18 criteria provided, single submitter clinical testing The c.631G>A (p.A211T) alteration is located in exon 7 (coding exon 4) of the PRX gene. This alteration results from a G to A substitution at nucleotide position 631, causing the alanine (A) at amino acid position 211 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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