Submissions for variant NM_015662.3(IFT172):c.1005+10A>T

gnomAD frequency: 0.00002  dbSNP: rs771534291

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002044196	SCV002112111	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2022-04-06	criteria provided, single submitter	clinical testing	This sequence change falls in intron 10 of the IFT172 gene. It does not directly change the encoded amino acid sequence of the IFT172 protein. This variant is present in population databases (rs771534291, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV002478095	SCV002787788	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2024-02-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552054	SCV004732510	likely benign	IFT172-related disorder	2020-07-29	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).