Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221886 | SCV000270248 | likely benign | not specified | 2015-01-06 | criteria provided, single submitter | clinical testing | p.Asn2735Ser in exon 35 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.4% (31/7266) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200604083). |
Invitae | RCV000917551 | SCV001062835 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000917551 | SCV001826686 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947701 | SCV004760989 | 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, |
RCV000221886 | SCV004803851 | likely benign | not specified | 2024-01-18 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.8204A>G (p.Asn2735Ser) results in a conservative amino acid change located in the Na-Ca exchanger/integrin-beta4 (IPR003644) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 1605956 control chromosomes, predominantly at a frequency of 0.0032 within the African or African-American subpopulation in the gnomAD database, including 1 homozygotes. To our knowledge, no occurrence of c.8204A>G 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: 227412). Based on the evidence outlined above, the variant was classified as likely benign. |