ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro)

gnomAD frequency: 0.00421  dbSNP: rs181475191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000932170 SCV001077850 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001155316 SCV001316738 uncertain significance Usher syndrome type 2C 2018-01-13 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195294 SCV001365609 benign not specified 2019-05-02 criteria provided, single submitter clinical testing The p.Gln2107Pro variant in ADGRV1 is classified as benign because it has been identified in 4.7% (1170/24774) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria Applied: BA1.
PreventionGenetics, part of Exact Sciences RCV003960492 SCV004774467 benign ADGRV1-related condition 2019-07-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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