ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) (rs41305898)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039581 SCV000063270 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Ser1405Phe in exon 20 of GPR98: This variant is not likely to have clinical si gnificance because it was identified in 0.17% (104/61754) European chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs41305898).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723975 SCV000227723 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723975 SCV000883366 likely benign not provided 2017-06-07 criteria provided, single submitter clinical testing The p.Ser1405Phe variant (rs41305898) has not been reported in the medical literature or gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.1 percent (identified on 305 out of 275,868 chromosomes, including 2 homozygotes) and has been reported to the ClinVar database (Variation ID: 46325). Further, this variant is present at over 1 percent in the Columbians from Medellin population (1000 Genomes). Due to the overabundance of the p.Ser1405Phe in the general population, this variant is likely to be benign.
GeneDx RCV000723975 SCV000968944 likely benign not provided 2018-06-05 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 RCV000723975 SCV001046119 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723975 SCV001154435 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151335 SCV001312456 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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