Submissions for variant NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter)

gnomAD frequency: 0.00001  dbSNP: rs781987043

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000578765	SCV000681117	uncertain significance	not provided	2023-06-26	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation as the last 6 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000578765	SCV001251795	pathogenic	not provided	2020-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000578765	SCV004647942	uncertain significance	not provided	2023-06-18	criteria provided, single submitter	clinical testing	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. ClinVar contains an entry for this variant (Variation ID: 489131). This variant has not been reported in the literature in individuals affected with PQBP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg260*) in the PQBP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the PQBP1 protein.