ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) (rs113938044)

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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, Partners HealthCare Personalized Medicine RCV000039502 SCV000063191 likely benign not specified 2017-03-02 criteria provided, single submitter clinical testing p.Phe3420Phe in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 0.3% (27/10150) of Ash kenazi Jewish chromosomes, 0.2% (229/126674) European chromosomes, and 0.2% (57/ 34414) Latino chromosomes by the Genome Aggregation Database (http://gnomad.broa dinstitute.org; dbSNP rs113938044) and is reported as benign in one publication (Le Quesne 2012).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724542 SCV000230823 uncertain significance not provided 2016-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000039502 SCV000513184 likely benign not specified 2017-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000724542 SCV001103052 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152997 SCV001314240 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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