ClinVar Miner

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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