ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) (rs200974394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039594 SCV000063283 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The His1859Arg vari ant in GPR98 has not been reported in the literature nor previously identified b y our laboratory in any affected individuals. This variant has been identified i n 0.01% (1/6644) of European American chromosomes in a broad population by the N HLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP). Althou gh this variant has been seen in the general population, its frequency is not hi gh enough to rule out a pathogenic role. Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that t he His1859Arg variant may not impact the protein, particularly based upon lack o f conservation in mammals, though this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of this variant can not be determined with certainty; however based upon lack of conservation, we wo uld lean towards a more likely benign role.
Fulgent Genetics,Fulgent Genetics RCV000765842 SCV000897238 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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