Submissions for variant NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)

gnomAD frequency: 0.00048  dbSNP: rs141098495

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000520966	SCV000620027	uncertain significance	not provided	2021-10-01	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001239376	SCV001412249	likely benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2024-12-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002476063	SCV002778460	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2022-02-16	criteria provided, single submitter	clinical testing
New York Genome Center	RCV002476063	SCV003925242	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2022-07-19	criteria provided, single submitter	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV003483653	SCV004228908	not provided	Short-rib thoracic dysplasia 10 with or without polydactyly		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 03-24-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
PreventionGenetics, part of Exact Sciences	RCV004553147	SCV004749308	likely benign	IFT172-related disorder	2022-09-08	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).