ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)

gnomAD frequency: 0.00001  dbSNP: rs727503078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000150770 SCV000198261 likely benign not specified 2013-06-21 criteria provided, single submitter clinical testing Ile3356Val in exon 48 of GPR98: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, rhesus, baboon, rat and horse have a valine (Val) at this position despite high nearby amino acid conservation.
Eurofins NTD LLC (GA) RCV000732465 SCV000860428 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV000732465 SCV002116769 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3356 of the ADGRV1 protein (p.Ile3356Val). This variant is present in population databases (rs727503078, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 163593). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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