Submissions for variant NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)

gnomAD frequency: 0.00003  dbSNP: rs201073459

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710437	SCV000343262	uncertain significance	not provided	2016-06-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710437	SCV000840654	uncertain significance	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710437	SCV001233370	likely benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153445	SCV001314731	uncertain significance	Usher syndrome type 2C	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000710437	SCV002008854	uncertain significance	not provided	2024-07-03	criteria provided, single submitter	clinical testing	Identified in the heterozygous state in an individual with hearing loss who was also heterozygous for the p.G2801R variant in the ADGRV1 [GPR98] gene in published literature; however, familial segregation and additional clinical information is not known (PMID: 26969326); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26969326)
Laboratory of Prof. Karen Avraham, Tel Aviv University	RCV001153445	SCV005199920	pathogenic	Usher syndrome type 2C	2024-08-20	criteria provided, single submitter	research	Pathogenic according to Deafness Variation Database based on PMID:26969326. This p.(Arg5703His) variant was detected in a hearing impaired individual with a sloping audiogram, normal-to-severe HL, in compound heterozygossity with the p.(Gly2801Arg) pathogenic variant.