ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) (rs771410054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000606863 SCV000731662 uncertain significance not specified 2017-05-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile1090Thr va riant in GPR98 has not been previously reported in individuals with hearing, but has been identified in 0.2% (19/10124) of Ashkenazi Jewish chromosomes by the G enome Aggregation Database (gnomAD,; dbSNP rs77 1410054). Computational prediction tools and conservation analyses do not provid e strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Ile1090Thr variant is uncertain, its frequency in the general population suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV001151215 SCV001312327 uncertain significance Usher syndrome, type 2C 2018-01-12 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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