ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)

gnomAD frequency: 0.01133  dbSNP: rs77791584
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039624 SCV000063313 benign not specified 2011-10-20 criteria provided, single submitter clinical testing Ala2431Ala in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed in dbSNP with a frequency of 6.8% (8/118) West A frican chromsomes and 2% (18/900) control chromosomes (rs77791584).
GeneDx RCV000039624 SCV000168710 benign not specified 2013-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000710459 SCV000840683 benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000710459 SCV001108676 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154587 SCV001315963 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV002490546 SCV002803427 likely benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-11-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039624 SCV000193287 likely benign not specified no assertion criteria provided clinical testing

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