Submissions for variant NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys)

gnomAD frequency: 0.00001  dbSNP: rs143130309

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001315078	SCV001505634	uncertain significance	not provided	2022-10-18	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 384 of the IFT81 protein (p.Arg384Cys). This variant is present in population databases (rs143130309, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IFT81-related conditions. ClinVar contains an entry for this variant (Variation ID: 599487). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IFT81 protein function. 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.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000736124	SCV000864421	likely pathogenic	Short stature	2001-11-18	no assertion criteria provided	case-control