ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) (rs200644004)

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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 RCV000606387 SCV000713305 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing The p.Tyr4235Cys variant in GRP98 has been reported in individuals with hearing loss (Miyagawa 2013) and has been identified in 0.03% (35/125796) of European ch romosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org/; dbSNP rs200644004). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Comp utational prediction tools and conservation analyses suggest that this variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of the p.Tyr4235Cys va riant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000765852 SCV000897248 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151949 SCV001313137 uncertain significance Usher syndrome, type 2C 2017-08-10 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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