Submissions for variant NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)

gnomAD frequency: 0.00007  dbSNP: rs201794999

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001795715	SCV002140065	pathogenic	not provided	2024-03-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln115*) in the IFT43 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT43 are known to be pathogenic (PMID: 21378380, 28400947). This variant is present in population databases (rs201794999, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. ClinVar contains an entry for this variant (Variation ID: 1328283). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005005286	SCV005633358	likely pathogenic	Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81	2024-03-14	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795715	SCV002036373	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795715	SCV002038133	pathogenic	not provided		no assertion criteria provided	clinical testing