ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser)

gnomAD frequency: 0.00022  dbSNP: rs200604083
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Total submissions: 5
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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 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
GeneDx RCV000917551 SCV001826686 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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, LabCorp 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.

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