Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 |
RCV000726030 | SCV000341346 | uncertain significance | not provided | 2018-08-13 | criteria provided, single submitter | clinical testing | |
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 | |
Gene |
RCV000726030 | SCV001791625 | likely benign | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726030 | SCV004159114 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | ADGRV1: BS2 |
Prevention |
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, |
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. |