Submissions for variant NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)

gnomAD frequency: 0.00036  dbSNP: rs184506506

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001044874	SCV001208695	likely benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001550209	SCV001770505	uncertain significance	not provided	2023-01-10	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Dept Of Ophthalmology, Nagoya University	RCV003890180	SCV004705234	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV005029603	SCV005656007	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2024-03-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553578	SCV004729110	likely benign	IFT172-related disorder	2024-06-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).