Submissions for variant NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)

gnomAD frequency: 0.00053  dbSNP: rs201890097

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155118	SCV000204804	likely benign	not specified	2013-12-12	criteria provided, single submitter	clinical testing	Thr5438Ala in Exon 76 of GPR98: This variant is not expected to have clinical si gnificance because it is poorly conserved across species, with two primates (mar moset and squirrel monkey) having an Ala at this position, and computational too ls (amino acid conservation, AlignGVGD, PolyPhen2, and SIFT) do not suggest an i mpact to the protein. In addition, it has been previously reported in one study as a "neutral" variant due to its presence in 4/878 (0.48%) control chromosomes (Le Quesne Stabej 2012), and was also identified in 0.1% (5/8240) of European A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu; dbSNP rs201890097).
Eurofins Ntd Llc (ga)	RCV000724031	SCV000232432	uncertain significance	not provided	2016-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000724031	SCV000982959	likely benign	not provided	2019-12-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135276, 32707200)
Illumina Laboratory Services, Illumina	RCV001157635	SCV001319224	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.
Invitae	RCV000724031	SCV001415412	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000724031	SCV001880706	uncertain significance	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003988829	SCV004805559	uncertain significance	Febrile seizures, familial, 4	2024-03-25	criteria provided, single submitter	research