ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) (rs376318779)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039639 SCV000063328 uncertain significance not specified 2018-11-28 criteria provided, single submitter clinical testing The p.Ile2704Phe variant in GPR98 has been previously reported by our laboratory in 5 individuals with hearing loss; however none of them carried a second varia nt affecting the remaining copy of GPR98. In addition, three of them had pathoge nic variants in a different gene that explain their hearing loss. The variant ha s also been identified in 0.02% (8/35350) of Latino chromosomes and 0.02% (27/12 8098) of European chromosomes by the Genome Aggregation Database (gnomAD, http:/ / This variant has been reported in ClinVar (Variatio n ID 46383). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Ile2704Phe variant is uncertain. ACMG/AMP Criteria: none.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727071 SCV000705377 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765845 SCV000897241 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727071 SCV001154442 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151659 SCV001312824 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000727071 SCV001414924 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 2704 of the ADGRV1 protein (p.Ile2704Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs376318779, ExAC 0.04%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 46383). 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: "Possibly 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.

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