Submissions for variant NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)

gnomAD frequency: 0.00009  dbSNP: rs373862154

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000613754	SCV000711061	uncertain significance	not specified	2017-09-12	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ser5625Le u variant in GPR98 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.13% (41/30734) of South Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs373862154). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that the p.Ser5 625Leu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ser5625Leu variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001317551	SCV001508220	likely benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506447	SCV002815643	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2022-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001317551	SCV005434663	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4