Submissions for variant NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002882141	SCV003242974	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2022-05-12	criteria provided, single submitter	clinical testing	This variant, c.1310_1311insAAA, results in the insertion of 1 amino acid(s) of the IFT172 protein (p.Met436_Asn437insLys), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs759083214, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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	RCV005027999	SCV005651472	uncertain significance	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	2024-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004738619	SCV005367670	uncertain significance	IFT172-related disorder	2024-04-24	no assertion criteria provided	clinical testing	The IFT172 c.1310_1311insAAA variant is predicted to result in an in-frame amino acid insertion (p.Met436_Asn437insLys). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.