ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) (rs145556097)

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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, Partners HealthCare Personalized Medicine RCV000039567 SCV000063256 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Asp1051Tyr in exon 17 of ADGRV1: This variant is not expected to have clinical significance because it has been identified in 0.29% (369/126480) of European chromosomes and 0.31% (105/34414) of Latino chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs145556097). ACMG/AMP criteria: BS1.
Genetic Services Laboratory, University of Chicago RCV000146076 SCV000193259 uncertain significance Febrile seizures, familial, 4 2013-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039567 SCV000226683 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000954913 SCV000321750 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23804846, 30180840, 22334370)
Invitae RCV000954913 SCV001101580 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151210 SCV001312322 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.
Athena Diagnostics Inc RCV000954913 SCV001475509 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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