Submissions for variant NM_015662.3(IFT172):c.1523G>A (p.Arg508His)

gnomAD frequency: 0.00030  dbSNP: rs144868723

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001053472	SCV001217736	likely benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2024-12-31	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001053472	SCV002764474	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2021-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV002553321	SCV003195089	uncertain significance	not provided	2023-01-05	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	RCV003890196	SCV004705271	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV002553321	SCV005187514	uncertain significance	not provided		criteria provided, single submitter	not provided
Fulgent Genetics, Fulgent Genetics	RCV005021380	SCV005651460	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2024-04-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553592	SCV004750470	likely benign	IFT172-related disorder	2022-02-03	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).