Submissions for variant NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)

gnomAD frequency: 0.00014  dbSNP: rs201007778

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001057951	SCV001222480	likely benign	not provided	2024-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155014	SCV001316414	uncertain significance	Usher syndrome type 2C	2018-01-13	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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	RCV001375207	SCV001571909	uncertain significance	Hearing impairment	2021-04-12	criteria provided, single submitter	clinical testing	PM2_Supporting, PP3_Supporting
GeneDx	RCV001057951	SCV001804076	uncertain significance	not provided	2024-10-24	criteria provided, single submitter	clinical testing	Reported in a patient with generalized epilepsy and CPVT in published literature (PMID: 29261713); 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: 30602096, 36484990, 29261713)
Fulgent Genetics, Fulgent Genetics	RCV002479352	SCV002782338	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2021-09-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001057951	SCV004159100	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ADGRV1: PM2
Breakthrough Genomics, Breakthrough Genomics	RCV001057951	SCV005189049	uncertain significance	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001057951	SCV001951932	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001057951	SCV001975197	uncertain significance	not provided		no assertion criteria provided	clinical testing