ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) (rs113498662)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150773 SCV000198266 likely benign not specified 2014-12-29 criteria provided, single submitter clinical testing p.Val3734Ala in exon 54 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.7% (70/9964) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs113498662).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150773 SCV000231357 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000766419 SCV000573567 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing The V3734A variant in the ADGRV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the V3734A variant is observed in 68/9792 (0.69%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The V3734A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V3734A as a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000150773 SCV000602445 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Invitae RCV000766419 SCV001109193 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157314 SCV001318873 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.

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