ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.607C>T (p.Gln203Ter)

dbSNP: rs2079456028
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037080 SCV001200477 pathogenic Charcot-Marie-Tooth disease type 4 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PRX-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRX protein in which other variant(s) (p.Arg1070*) have been determined to be pathogenic (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 836047). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln203*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1259 amino acid(s) of the PRX protein.

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