Submissions for variant NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)

gnomAD frequency: 0.00002  dbSNP: rs727505041

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156468	SCV000206187	uncertain significance	not specified	2014-04-11	criteria provided, single submitter	clinical testing	The Ser3097Arg variant in GPR98 has not been previously reported in literature o r in large population studies. Computational prediction tools and conservation a nalyses do not provide strong support for or against an impact to the protein. I n summary, the clinical significance of the Ser3097Arg variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001045007	SCV001208834	likely benign	not provided	2024-09-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001045007	SCV002007238	uncertain significance	not provided	2019-06-24	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002516336	SCV003546634	uncertain significance	Inborn genetic diseases	2021-08-02	criteria provided, single submitter	clinical testing	The c.9291T>G (p.S3097R) alteration is located in exon 43 (coding exon 43) of the ADGRV1 gene. This alteration results from a T to G substitution at nucleotide position 9291, causing the serine (S) at amino acid position 3097 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.