ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) (rs200058876)

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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 RCV000725730 SCV000338978 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
Mendelics RCV000987532 SCV001136847 benign Usher syndrome, type 2C 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000725730 SCV001421406 uncertain significance not provided 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 599 of the ADGRV1 protein (p.Arg599Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs200058876, ExAC 0.1%). This variant has been reported in an individual affected with bilateral sensorineural hearing loss (PMID: 23967202). This gene is also known as GPR98 in the literature. ClinVar contains an entry for this variant (Variation ID: 158647). Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Genetic Services Laboratory, University of Chicago RCV000146071 SCV000193248 likely benign not specified no assertion criteria provided clinical testing

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