ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)

gnomAD frequency: 0.00145  dbSNP: rs146954342
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Total submissions: 8
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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 RCV000221347 SCV000270242 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr1691Met in Exon 23 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (11/3156) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs146954342).
Eurofins Ntd Llc (ga) RCV000726030 SCV000341346 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000221347 SCV000602441 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000726030 SCV001041315 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000726030 SCV001791625 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726030 SCV004159114 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing ADGRV1: BS2
PreventionGenetics, part of Exact Sciences RCV003937826 SCV004752973 likely benign ADGRV1-related condition 2021-06-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000221347 SCV004803850 likely benign not specified 2024-01-18 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.5072C>T (p.Thr1691Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00028 in 1611122 control chromosomes, including 3 homozygotes, predominantly at a frequency of 0.0037 within the African or African-American subpopulation in the gnomAD database, suggesting that the variant is a benign polymorphism. To our knowledge, no occurrence of c.5072C>T in individuals affected with ADGRV1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 227407). Based on the evidence outlined above, the variant was classified as likely benign.

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