ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) (rs369793306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000416421 SCV000494232 likely pathogenic Usher syndrome, type 2C 2016-04-05 criteria provided, single submitter clinical testing The c.12436C>T (p.Arg4146*) nonsense variant in the GPR98 (also referred to as ADGRV1) gene is a novel variant that has not previously been reported. Loss of function variants in this gene are a known mechanism, and variants that predict premature protein truncation that are downstream of this c.1236C>T variant have been reported in affected individuals (Stabej PLQ et al . 2012; Garcia-Garcia G et al., 2013) . This variant is absent from the population databases (Exome Sequencing Project = NA; 1000 Genomes = NA; and ExAC = NA). Therefore, this collective evidence supports the classification of the c.12436C>T (p.Arg4146*) as a Likely pathogenic variant for Usher Syndrome Type IIC. We have confirmed this finding in our laboratory using Sanger sequencing.

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