Submissions for variant NM_020956.2(PRX):c.*1097C>T (rs185112635)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000486812	SCV000565432	uncertain significance	not specified	2016-10-20	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the PRX gene. The P298S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project and the 1000 Genomes Project report P298S was observed in 0.5-2.5% of alleles from various African subpopulations, indicating it may be a rare (benign) variant in this population. The P298S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae	RCV000543868	SCV000658040	benign	Charcot-Marie-Tooth disease type 4	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173761	SCV001336875	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing