Submissions for variant NM_181882.3(PRX):c.627del (p.Ala210fs)

dbSNP: rs1599656507

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809034	SCV000949170	pathogenic	Charcot-Marie-Tooth disease type 4	2018-08-28	criteria provided, single submitter	clinical testing	This sequence change results in a premature translational stop signal in the PRX gene (p.Ala210Profs*103). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1252 amino acids of the PRX protein. While this variant is not present in population databases, the frequency information is 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. A different truncation (p.Arg1070*) that lies downstream of this variant has been determined to be pathogenic (PMID: 15197604, 16770524, 22847150, 26059842). This suggests that deletion of this region of the PRX protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001091174	SCV001247056	pathogenic	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Cologne University	RCV001796241	SCV002034340	pathogenic	Charcot-Marie-Tooth disease type 4F		no assertion criteria provided	clinical testing