Submissions for variant NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter)

gnomAD frequency: 0.00002  dbSNP: rs373701249

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001836911	SCV000999245	pathogenic	Abnormality of the nervous system	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001823171	SCV002072716	pathogenic	not provided	2024-06-14	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32434006, 28940097, 34540776)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001823171	SCV004295949	pathogenic	not provided	2023-12-03	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg929*) in the TRAPPC9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRAPPC9 are known to be pathogenic (PMID: 2000476, 20004763, 20004764). This variant is present in population databases (rs373701249, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with intellectual disability (PMID: 28940097). ClinVar contains an entry for this variant (Variation ID: 694658). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004029278	SCV005016526	pathogenic	Intellectual disability, autosomal recessive 13	2024-03-14	criteria provided, single submitter	clinical testing