ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) (rs375632680)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213261 SCV000271803 likely benign not specified 2018-05-15 criteria provided, single submitter clinical testing The p.Ile4043Thr variant in ADGRV1 has been previously reported by our laborator y in the heterozygous state in 3 individuals with hearing loss, but a variant af fecting the remaining copy of the gene was not identified. This variant has been identified in 21/122272 European chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs375632680). Computational p rediction tools and conservation analysis suggest that the p.Ile4043Thr variant may not impact the protein with the site poorly conserved. Also, this gene is hi ghly polymorphic with very few pathogenic missense variants. In summary, this va riant meets criteria to be classified as likely benign. ACMG/AMP Criteria applie d: PM2_Supporting, BP4.
Athena Diagnostics Inc RCV000710425 SCV000840639 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765849 SCV000897245 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153110 SCV001314365 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.

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