Submissions for variant NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)

gnomAD frequency: 0.00034  dbSNP: rs201391886

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155106	SCV000204792	uncertain significance	not specified	2018-03-21	criteria provided, single submitter	clinical testing	The p.Ala1503Thr variant in ADGRV1 has been previously identified by our laborat ory in two individuals with hearing loss; however a variant affecting the remain ing copy of ADGRV1 was not identified in either individual. This variant has bee n identified in 56/126586 European chromosomes by the Genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs201391886) and is reported in ClinVar (Variation ID: 110040). Although this variant has been seen in the g eneral population, its frequency is not high enough to rule out a pathogenic rol e. Computational prediction tools and conservation analysis do not provide stron g support for or against an impact to the protein. In summary, the clinical sign ificance of the p.Ala1503Thr variant is uncertain. ACMG/AMP Criteria applied: No ne.
Eurofins Ntd Llc (ga)	RCV000488366	SCV000227849	uncertain significance	not provided	2014-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488366	SCV000575431	uncertain significance	not provided	2016-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000488366	SCV001212546	likely benign	not provided	2024-09-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151340	SCV001312461	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.
GeneDx	RCV000488366	SCV002039056	uncertain significance	not provided	2024-07-10	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV002483173	SCV002776987	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2022-01-21	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000488366	SCV004227096	uncertain significance	not provided	2022-04-13	criteria provided, single submitter	clinical testing	PM2_supporting
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000488366	SCV001740668	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000488366	SCV001976135	uncertain significance	not provided		no assertion criteria provided	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004815186	SCV005072311	uncertain significance	Retinal dystrophy	2022-01-01	no assertion criteria provided	clinical testing