Submissions for variant NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) (rs199833843)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 4

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000394411	SCV000345471	uncertain significance	not provided	2016-09-12	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000765847	SCV000897243	uncertain significance	Usher syndrome, type 2C; Febrile seizures, familial, 4	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000394411	SCV000967915	likely benign	not provided	2018-05-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000394411	SCV001395403	uncertain significance	not provided	2019-09-13	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with threonine at codon 3212 of the ADGRV1 protein (p.Ile3212Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs199833843, ExAC 0.2%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290825). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.