Submissions for variant NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)

gnomAD frequency: 0.00047  dbSNP: rs183633457

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725653	SCV000338383	uncertain significance	not provided	2016-01-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000377249	SCV000711059	uncertain significance	not specified	2019-09-13	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Pro5057Ser variant in ADGRV1 has been previously reported in 2 individuals with hearing loss by our laboratory, including 1 who was compound heterozygous for a second variant of uncertain significance in ADGRV1. This variant has been identified in 0.09% (117/128212) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
Fulgent Genetics, Fulgent Genetics	RCV000765858	SCV000897254	uncertain significance	Usher syndrome type 2C; Febrile seizures, familial, 4	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725653	SCV001224325	likely benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001153318	SCV001314602	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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000725653	SCV001448954	uncertain significance	not provided	2019-07-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000725653	SCV001767731	likely benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816500	SCV005069399	uncertain significance	Optic atrophy	2022-01-01	no assertion criteria provided	clinical testing