ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) (rs759908554)

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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, Partners HealthCare Personalized Medicine RCV000220256 SCV000271802 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing The p.Pro3860Leu variant in GPR98 has been previously reported in 1 individual w ith type 1 Usher Syndrome; however, a variant affecting the remaining copy of GP R98 was not identified in that individual (Bujawkowska 2014). This variant has also been identified in 4/54010 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has be en seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Pro3860Leu variant is uncertain.
Invitae RCV001054099 SCV001218395 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 3860 of the ADGRV1 protein (p.Pro3860Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs759908554, ExAC 0.007%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 228705). 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: "Probably Damaging"; 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.
Illumina Clinical Services Laboratory,Illumina RCV001151869 SCV001313043 uncertain significance Usher syndrome, type 2C 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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