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

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Total submissions: 4

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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.

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