ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)

gnomAD frequency: 0.00004  dbSNP: rs376376418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724399 SCV000232422 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000180061 SCV000711058 uncertain significance not specified 2016-06-20 criteria provided, single submitter clinical testing The p.Ala5049Thr variant in GPR98 has not been previously reported in individual s with hearing loss. This variant has been identified in 6/115918 of the total c hromosomes in the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs376376418). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f the p.Ala5049Thr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002478599 SCV002780341 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724399 SCV002936551 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing

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