ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1305C>A (rs143400291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654109 SCV000775999 uncertain significance Charcot-Marie-Tooth disease type 4 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 367 of the PRX protein (p.Ala367Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs143400291, ExAC 0.009%). This variant has not been reported in the literature in individuals with PRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 543361). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics Inc RCV001288689 SCV001475997 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing

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